Le Diko - en:ragged-red muscle fibers

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Le Diko - en:ragged-red muscle fibers

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le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

en:ragged-red muscle fibers

Nom

Informations lexicales

Langue:anglais

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Associations d'idées

1000

en:ubiquinone decreased

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en:granular deposits in the sarcomeres

•

en:normal neonatal period may occur before weakness is apparent

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en:cranial muscles spared

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en:decreased activity of cytochrome c oxidase (in most cases)

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•

•

en:dystrophic changes

•

en:giant granules in muscle cells

•

en:generalized limb muscle atrophy

•

en:non-pitting edema

•

en:secondary loss of merosin and desmin

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:wasting, especially temporal, neck, and facial muscles

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:distal muscle atrophy (lower limbs more affected than upper limbs)

•

en:hyporeflexia in affected muscles

•

en:loss of subcutaneous fat, generalized

•

en:muscle fiber immaturity

•

en:prominent muscular appearance

•

en:abnormal aggregates of desmin and filamin c

•

en:absence of gamma-sarcoglycan protein

•

en:angulated fibers

•

en:cores have abrupt borders within normal regions of the muscle fiber

•

en:fiber type variation

•

en:muscle weakness due to peripheral neuropathy

•

en:nemaline myopathy (in 1 reported male)

•

en:decreased activity of mitochondrial complex i

•

en:decreased or patchy amounts of alpha-dystrobrevin and beta-2-syntrophin at the sarcolemma

•

en:winged scapula

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:increased endomysial fibrosis

•

en:mitochondrial dna deletions (in some patients)

•

en:muscle weakness following prolonged exercise

•

•

en:subsarcolemmal nemaline bodies (rods) on gomori trichrome staining

•

en:decreased muscle mass (in some patients)

•

en:exercise-induced muscle cramps

•

en:head drop due to neck muscle weakness

•

en:increased internal nuclei in skeletal muscle fibers

•

en:peripheral edema

•

en:premature exertional muscle weakness

•

en:muscle weakness, proximal, lower limbs (upper limbs may become affected later)

•

en:proximal muscle weakness (occasional)

•

en:shoulder muscle weakness (in some patients)

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology

•

en:exercise-induced muscle stiffness

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:hypotonia (in some patients)

•

en:fragmented mitochondrial network

•

en:calcific tendinopathy, early-onset (in some patients)

•

en:eosinophilic inclusions

•

en:distal muscle weakness in lower limbs, severe

•

en:distal muscle atrophy, predominantly lower limbs

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:no myofibrillar abnormalities or protein aggregation

•

en:muscle biopsy shows ragged-red fibers with decreased cox activity

•

en:inclusion bodies seen on biopsy (in some patients)

•

en:poor exercise tolerance

•

en:indentations or folds of the sarcolemma are connected to the membranes enclosing the vacuoles

•

en:proximal lower limb amyotrophy

•

en:muscle hypertrophy (meb)

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en:muscles have a woody consistency on palpation

•

en:mildly decreased cytochrome c oxidase activity

•

en:muscle atrophy, proximal and distal (predominant lower limb involvement)

•

en:heterotopic bone formation in subcutaneous fat

•

en:generalized muscle weakness (less common)

•

en:fiber-type variability

•

en:rhabdomyolysis

•

en:distal muscle weakness, predominantly lower limbs

•

en:small miniature endplate currents (mepc)

•

en:type 2 muscle fiber predominance

•

en:calf muscle hypoplasia

•

en:deposits immunoreactive to beta-amyloid protein

•

en:muscle biopsy shows variation in fiber size (family a)

•

en:muscle fatigability

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en:muscle wasting due to chronic denervation

•

en:nemaline bodies (rods) on gomori trichrome staining seen on muscle biopsy

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en:plantar fibromatosis

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en:proximal muscle weakness, less severe

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:low muscle mass

•

en:adipose tissue shows many adipocytes with multiple small lipid droplets rather than a normal single lipid droplet

•

en:repetitive action potentials in response to single nerve stimulation

•

en:z-disk degeneration

•

en:biopsy shows myopathic and dystrophic changes

•

en:toe-walking gait

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en:shoulder weakness and atrophy

•

en:weak extraocular muscles

•

en:muscle pain and cramps following exercise

•

en:muscle biopsy shows dystrophic pattern

•

en:muscle atrophy (in some patients)

•

en:hypotonia, neonatal and later

•

en:cores extend along length of muscle fiber

•

en:abnormal muscle fiber protein expression

•

en:attacks may present during or after sleep

•

en:fiber necrosis

•

en:mitochondrial complex i deficiency

•

en:motor clumsiness

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, 128239)

•

en:muscle biopsy shows loss of type 2a fibers

•

en:muscle biopsy shows mild dystrophic changes

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:paracrystalline inclusions

•

en:severe form shows absence of spontaneous activity at birth

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:bilateral facial weakness (congenital form)

•

en:gait, drop foot

•

en:lipid and glycogen accumulation

•

en:muscle fibers may contain abnormal polysaccharide

•

en:upper and/or lower limbs may be affected

•

en:variation of fiber size and shape

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en:shoulder weakness

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:myofibromatosis affecting skin, muscle, bone, and viscera

•

en:muscle weakness (type i)

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle biopsy shows neurogenic atrophy

•

en:distal lower limb muscle weakness

•

en:lipodystrophy (in some patients)

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en:increased lipid droplets and abnormal mitochondria

•

en:groups of atrophic fibers seen on muscle biopsy (type i fiber predominance)

•

en:emg shows myotonic changes

•

en:signs of denervation seen on biopsy

•

en:secondarily decreased activities of mitochondrial respiratory enzymes (1 patient)

•

en:muscle pain and cramping on exertion

•

en:upper arm and pelvic muscle weakness and atrophy (later onset)

•

en:lower and upper limbs affected

•

en:weakness of the extensor muscles of the hands (initially)

•

en:smooth muscle may also become involved

•

en:secondary loss of sarcolemmal caveolin-3

•

en:poor development of the postsynaptic membrane

•

en:repetitive response to single nerve stimulation

•

en:internal nuclei (in some patients)

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en:increased fatty and connective tissue in skeletal muscle

•

en:inability to stand on tiptoes

•

en:weakness worsened by activity

•

en:flaccid neck

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en:cervical muscle weakness

•

en:difficulty walking and climbing stairs

•

en:accumulation of intrasarcoplasmic granulofilamentous aggregates that are immunoreactive to desmin and alpha-beta-crystallin

•

en:atrophy of the lower leg muscles

•

en:fatty deposition

•

en:type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria

•

en:weakness of neck extensors (rare)

•

en:angular fibers (in some patients)

•

en:decreased mitochondrial respiratory chain enzyme activity (patient b)

•

en:muscle weakness increases with age

•

en:emg shows myopathic or neurogenic changes

•

en:hypotrophic type 2 muscle fibers

•

en:increased fatigability

•

en:muscle cramp

•

en:myopathy with abnormal lipid metabolism

•

en:proximal muscle weakness, mild, of shoulder and hip girdle muscles (in some patients)

•

en:proximal weakness

•

en:variably decreased activities of mitochondrial respiratory complexes i, ii, and iv

•

en:hypotonia, axial, severe

•

en:myalgia with febrile episodes (rare)

•

en:muscle weakness, proximal, upper and lower limbs affected

•

en:muscle weakness and atrophy

•

en:muscle weakness and atrophy, progressive

•

en:neuropathic or myopathic changes seen on emg

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

en:nemaline rod formation

•

en:neonatal hypertonias

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en:merosin-positive biopsy

•

en:nonspecific muscle fiber atrophy

•

en:muscle weakness, particularly of the lower limbs

•

en:muscle atrophy (1 patient)

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en:muscle hyperirritability

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle biopsy shows glycogen storage

•

en:muscle atrophy (type i)

•

en:muscle aches, cramps

•

en:mri may show cervical spinal cord atrophy

•

en:mitochondrial myopathies

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en:minipolymyoclonus

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en:mild endplate myopathy

•

en:mildly decreased laminin alpha-2 expression (lama2, 156225)

•

en:percussion-induced rapid rolling muscle contractions (pirc)

•

en:onset of weakness in hands and feet

•

en:skeletal muscle biopsy shows hypertrophy of type 1 and 2 muscle fibers

•

en:predominance of oxidative fibers

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en:macroglossia

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en:type 1 fibers are at least 12% smaller than type 2 fibers

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en:transient eosinophilic myositis (seen on muscle biopsy) in the first decade

•

en:toe and foot dorsiflexor weakness

•

en:tibialis anterior muscle affected

•

•

en:symmetrical, proximal limb muscle atrophy (pelvic, scapular, trunk muscles)

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en:swelling of the hands and feet, episodic

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en:sparing of small hand and finger muscles

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en:small nerve terminals

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:shoulder muscle weakness

•

en:prominent veins, lower limbs

•

en:shoulder girdle muscle atrophy

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en:shortened open channel duration

•

en:scapuloperoneal weakness

•

en:relative muscle weakness, especially in pelvic girdle

•

en:redundancy of basal lamina with accumulated debris

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en:reduced ankle dorsiflexion

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en:ragged red fibers seen on skeletal muscle biopsy

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en:ragged red fibers (in some patients)

•

en:proximal weakness of the lower limbs with longer disease duration

•

en:proximal muscle weakness (in some patients)

•

en:proximal muscle involvement may occur

•

en:marked predominance of slow-twitch, oxidative (type 1) muscle fibers

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:lymphedema of lower limbs (in some patients)

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:denervation seen on emg

•

en:degenerating nerve terminals

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:decremental cmap response to repetitive nerve stimulation

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:decreased or absent ankle reflexes

•

en:decreased mitochondrial respiratory complexes i and iv

•

en:decreased hand grip strength

•

en:decreased glycosylation of alpha-dystroglycan (dag1, 128239)

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:disorganization of the myofibrillar pattern

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en:decreased activities of complexes i, iii, and iv, variable

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en:chronic fatigable muscles

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en:casq1-immunopositive inclusions

•

en:biopsy shows rimmed vacuoles, central nuclei, and variation in fiber size

•

en:biopsy of adipose tissue shows reduced adipocyte size

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en:arm/shoulder muscle hypoplasia

•

en:areflexia due to muscle weakness

•

en:abnormal muscle tone

•

en:type 1 muscle fiber predominance

•

en:muscle fiber splitting

•

en:upper limb involvement may occur later

•

en:difficulty walking

•

en:distal atrophy of the legs

•

en:lymphedema, of upper and/or lower extremity (rare)

•

en:increased internal nuclei

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en:lymphangitis, episodic

•

en:loss of adipose tissue occurs around puberty

•

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en:limb-girdle muscle weakness (2 families)

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en:isolated necrotic fibers

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en:involves upper and lower proximal muscles

•

en:independent walking may not be achieved

•

en:increased visceral fat

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en:increased muscle lipid content

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en:increased length of endplate regions seen on muscle biopsy

•

en:increased fatigue

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en:distal limb muscle atrophy, lower more than upper

•

en:increased connective tissue

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en:inability to sit or hold head up

•

en:hypotrophy of the small hand muscles

•

en:hypotonia, severe, persistent

•

en:generalized muscle weakness also seen in symptomatic carrier females

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en:generalized muscle wasting

•

en:frontalis muscle weakness

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en:fibromyalgia

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en:fat pad between achilles tendon and medial malleolus

•

en:emg shows denervation

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en:distal limb muscle weakness due to peripheral neuropathy (lower limbs are more affected than upper limbs)

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en:type 2 muscle fiber atrophy

•

en:deep finger muscle weakness

•

en:upper limb weakness

•

en:muscle biopsy shows nemaline bodies (rods) on gomori trichrome staining

•

en:myopathic features seen on biopsy

•

en:myopathic changes early in disease seen on emg

•

en:myalgia (in some patients)

•

•

en:muscle weakness is predominantly of extremities and tongue

•

en:muscle weakness, variable

•

en:muscle weakness, proximal, due to neuronopathy begins in the lower limbs and then progresses to upper limbs

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:muscle biopsy shows myopathic changes

•

en:myxedematous appearance

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en:muscle biopsy shows loss of myofibrillar organization

•

en:muscle biopsy shows lipid deposition

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:muscle biopsy in acute stage shows increased numbers of abnormal mitochondria

•

en:muscle atrophy, upper and lower limbs

•

en:multiple mitochondrial dna (mtdna) deletions seen on muscle biopsy

•

en:mtdna deletions seen on muscle biopsy

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:mitochondrial myopathy, severe

•

en:lymphedema of the lower limbs (swelling is confined to below the knees)

•

•

en:necrotic muscle fibers

•

en:lower limb muscle atrophy

•

en:skeletal muscle biopsy showed mitochondrial complex i deficiency (1 family)

•

en:progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3

•

en:muscular dystrophy, limb-girdle, type 1h

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle)

•

en:weakness, axial and limb muscles, upper limb muscles more affected than lower limbs

•

en:tubular aggregates seen on biopsy

•

en:tubular aggregates mainly in type 1 fibers

•

en:transient muscle weakness occur in 75% of patients, particularly in the arms and hands

•

en:small atrophic fibers (in some patients)

•

en:skeletal muscle biopsy shows enlarged mitochondria with abnormal cristae decreased mitochondrial complex i activity

•

en:shoulder muscle hypoplasia

•

en:neonatal edema (in some patients)

•

en:secondary myopathic features

•

en:scapular muscle weakness

•

en:rimmed vacuoles

•

en:reduced subcutaneous fatty tissue

•

en:reduced postsynaptic cleft area

•

en:reduced muscle tone but normal power

•

en:prominent musculature

•

en:prominent involvement of the quadriceps femoris muscles

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:painful swelling in fasciae

•

en:no ragged-red fibers

•

en:lymphedema of lower extremity

•

en:mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)

•

en:lipohypoplasia, regional

•

en:contractures of upper limbs (in some patients)

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:decreased glycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:decreased endplate potential and amplitudes

•

en:decreased density of calcium release units

•

en:decreased coenzyme q10 levels in muscle

•

en:decreased activity of respiratory complex i+iii

•

en:decreased activities of mitochondrial respiratory complexes i and iii seen on skeletal muscle biopsy

•

en:decreased achr at the endplate

•

en:decreased achilles reflex

•

en:cytochemical and em muscle studies show large, bizarre mitochondria in striated muscle

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:decreased numbers of achr seen on muscle biopsy

•

en:carpopedal spasm

•

en:calf pseudohypertrophy rare

•

en:biopsy shows deposition of complement proteins c5b-9 of the membrane attack complex on muscle fibers or in vacuoles

•

en:atrophy, neurogenic muscular

•

en:absence of subcutaneous fat over entire body except buttocks, hips, and thighs

•

en:abnormal sarcoplasmic reticulum elements

•

en:abnormal mitochondria with loss of cristae

•

en:abdominal wall muscle weakness (later onset)

•

en:reduced muscle carnitine level

•

en:limb-girdle muscular dystrophy

•

en:variable deficiencies of mitochondrial respiratory chain complexes i, iii, and iv

•

en:decreased mtdna

•

en:weakness of ankle and toe extensor (dorsiflexor) muscles

•

en:decreased respiratory complex i+iii and ii+iii activity

•

en:emg shows myopathic changes

•

en:limb-girdle muscle atrophy

•

en:inclusions are dnajb6-immunoreactive

•

en:gowers sign (in some patients)

•

en:glycogen depletion in skeletal muscle

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:fatty infiltration seen on muscle biopsy

•

en:facial diplegia

•

en:exercise-induced myalgia

•

en:episodic, nonerythematous, nonpruritic, nontender edema, episodic

•

en:enteroviral dermatomyositis syndrome

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

•

en:emg and muscle biopsy shows chronic denervation of the peripheral nerves

•

en:edema, generalized

•

en:disuse atrophy

•

en:distal muscle weakness, occurs initially

•

en:distal muscle weakness, affecting the lower limbs

•

en:distal limb muscle weakness occurs later

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:difficulty rising from chair

•

en:degrading mitochondria

•

en:degeneration of junctional folds

•

en:electrophysiologic studies show abnormal inactivation and delayed repolarization of the scn4a sodium channel

•

en:muscle hypertrophy in affected area

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle cramps during exercise

•

en:muscular appearance

•

en:muscle pain (less common)

•

en:muscle weakness

•

en:muscle weakness (in 90% of patients)

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:muscle coenzyme q deficiency

•

en:muscle atrophy in the limbs

•

en:muscle biopsy shows small fibers with central nuclei and accumulation of mitochondria in the central part of the fibers

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle biopsy shows dystrophic features (later in disease course)

•

en:muscle biopsy shows deficiency of mitochondrial respiratory enzymes i, iii, iv, and iv

•

en:muscle atrophy, primarily in the legs

•

en:multiple mitochondrial dna (mtdna) deletions (in most cases)

•

en:mri shows increased signal intensity in affected muscles consistent with fatty infiltration

•

en:mitochondrial dna depletion (20 to 35% of normal) seen on skeletal muscle biopsy

•

en:mitochondrial complex iii deficiency, isolated, seen on muscle biopsy

•

en:muscular dystrophy

•

en:marked loss of subcutaneous fat in the limbs, face, and sometimes chest

•

en:proximal lower limb muscle weakness, upper and lower (later onset)

•

en:myalgia, episodic

•

en:sarcomere disappearance seen on muscle biopsy

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:muscle fiber atrophy

•

•

en:variation of myofiber diameter

•

en:subcutaneous edema

•

en:sparing of the brachioradialis muscle (gives appearance of 'oblique amyotrophy')

•

en:small rounded fibers

•

en:severely decreased or absent lamp2 protein

•

en:secondary myopathic changes

•

en:sarcoplasmic inclusions

•

en:respiratory muscles may be involved (more common in juvenile-onset)

•

en:myopathic pattern on emg

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:abnormal iron deposition in mitochondria

•

en:progressive distal muscle weakness

•

en:polymyositis

•

en:pectoralis hypoplasia

•

en:painful swelling in aponeuroses

•

en:no staining for periodic acid schiff (pas)

•

en:neurogenic atrophy of muscle fibers seen on biopsy (in some patients)

•

en:myotonia improves with continued activity ('warm-up phenomenon')

•

en:myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise

•

en:myopathy (rare)

•

en:lower limbs more affected than upper limbs

•

en:distal muscle weakness and atrophy may occur, upper and lower limbs affected

•

en:lipid droplets seen on muscle biopsy

•

en:a subset of patients develop bilateral weakness

•

en:defects in mitochondria respiratory activities, mainly complexes i, ii, and iv

•

en:decreased miniature endplate potential (mepp) and current (mepc)

•

en:decreased cytochrome c oxidase (cox) activity and protein

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:decreased activity of respiratory complex ii+iii

•

en:cores contain densely packed myofilaments

•

en:congenital absence of gluteal muscles

•

en:complex v deficiency

•

en:central nuclei

•

en:biopsy shows dystrophic changes

•

en:attacks precipitated by cold temperature

•

en:disruption of sarcomeres with disorganization of the z band

•

en:atrophic fibers seen on biopsy

•

en:anterior tibial muscles first involved

•

•

en:amorphous granulofilamentous material associated with z-discs

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:abnormal distribution of subcutaneous fat

•

en:rimmed vacuoles on biopsy

•

en:autophagosome

•

en:muscle soft, tissue

•

en:acute rhabdomyolysis

•

en:delayed ambulation

•

en:distal muscle weakness

•

en:lipid accumulation in muscle tissue

•

en:gait abnormalities (occurs later)

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:increased connective tissue and fat

•

en:hypotonia (2 patients)

•

en:hypotonia, generalized, severe

•

en:hypoplasia of muscle

•

en:hypertonia in infancy

•

en:hip girdle muscle atrophy

•

en:glycogen deficiency in muscle fibers

•

en:gait unsteady

•

en:firm muscles

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:fiber size variation seen on muscle biopsy

•

en:fatty infiltration of affected muscles

•

en:facial muscle atrophy of involved side

•

en:exertional fatigue

•

en:emg shows myopathic and neurogenic changes

•

en:emg consistent with chronic neurogenic disorder

•

en:emg - repetitive muscle discharges

•

en:electromyography shows myotonic discharges

•

en:dystrophic changes on biopsy

•

en:distal myopathy (in 1 family)

•

en:abnormal mitochondria

•

en:muscle weakness associated with fasting or infection

•

en:amyotrophy of the upper limbs (in some patients)

•

en:muscle hypotonia

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:necrotic and regenerating fibers

•

en:myotonia is most pronounced in the extremities

•

en:myofibroma (in 1 patient)

•

en:muscle weakness (in some patients)

•

en:muscle weakness (hcs)

•

en:muscle weakness, proximal limb muscle, mild to moderate

•

en:muscle wasting, progressive

•

en:muscle spasticity

•

en:muscle pain with exercise (in older patients)

•

en:muscle biopsy shows small rounded fibers

•

en:neurogenic changes later in disease seen on emg

•

en:muscle biopsy shows small, membrane-bound vacuoles predominantly in type 2 fibers

•

en:muscle biopsy shows necrotic and atrophic fibers with centralized nuclei

•

en:muscle biopsy shows fiber type variation (in some patients)

•

en:muscle atrophy appears later in disease course

•

en:muscle atrophy, progressive

•

en:muscle atrophy, limb-girdle and proximal

•

en:muscle aches, intermittent

•

en:mitochondria show paracrystalline inclusions

•

en:lymphedema, hands (rare)

•

•

en:neurogenic atrophy seen on muscle biopsy

•

en:noninflammatory myopathy with rimmed vacuoles and atrophic fibers seen on muscle biopsy

•

en:loss of subcutaneous fat

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:ankle reflex absent

•

en:weakness of long finger extensor muscles (occurs later)

•

en:wasting of calf muscles (rare)

•

en:vacuoles are autophagocytic and contain granular and membranous cellular debris

•

en:type ii fiber predominance

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:triceps weakness

•

en:tremor of the upper limb

•

en:thenar muscle atrophy

•

en:subsarcolemmal mitochondrial accumulation

•

en:some patients never achieve ambulation

•

en:normal or increased abdominal adipose tissue

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:scattered necrotic fibers

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:rhabdomyolysis with exercise (in older patients)

•

en:rhabdomyolysis (in some patients) endocrine : hypogonadotropic hypogonadism (rare)

•

en:rare necrotic fibers

•

en:ragged-red fibers on muscle biopsy

•

en:progressive proximal muscle involvement

•

en:pelvic girdle weakness

•

en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue) (1 family)

•

en:low maximum workload on exercise testing

•

en:tendinous and tuberous xanthoma

•

en:loose connective tissue

•

en:decreased coenzyme q10

•

en:distal limb muscle weakness (less common)

•

en:difficulty standing

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:deltoid muscle hypoplasia

•

en:defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:decreased postsynaptic areas of clefts and folds seen on muscle biopsy

•

en:decreased muscle mass, especially distally

•

en:decreased mitochondrial complex iv activity (in some patients)

•

en:decreased lipoic acid

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:distal muscle weakness and atrophy, upper and lower limbs

•

en:decreased activities of complexes i and iv

•

en:decreased ability to run

•

•

en:central cores seen on muscle biopsy

•

en:cellulitis or infection may occur

•

en:biopsy muscle normal

•

en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

•

en:atrophic fibers

•

en:areflexia of lower limbs

•

en:lipoatrophy of trunk

•

en:distal muscle atrophy, upper and lower limbs, due to peripheral neuropathy mitochondrial complex iv deficiency

•

en:centrally located nuclei seen on muscle biopsy

•

en:distal muscle weakness of the lower limbs secondary to peripheral neuropathy

•

en:hamstring and quadriceps muscles mildly affected

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:edematous hands and feet (1 patient)

•

en:inflammatory cells absent

•

en:increased number of small endplates

•

en:increased glycogen

•

en:hypotonia (patients a and c)

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:hemihypertrophy of right arm and leg (rare)

•

•

en:hand muscle atrophy

•

en:increased endo- and perimysial connective tissue

•

en:generalized weakness (adult-onset)

•

en:fiber size variation

•

en:generalized amyotrophy

•

en:exercise intolerance (cvs+)

•

en:enlarged mitochondria

•

en:extensor finger muscle weakness

•

en:fibrillations in affected muscles

•

en:floppy infant syndrome

•

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:exercise capacity decreased

•

en:muscle weakness is not a feature

•

en:muscle weakness, proximal and distal, affecting upper and lower limbs

•

en:muscle weakness, hypokalemia-related

•

en:muscle shows lipid accumulation

•

en:muscle pain following exercise (in some patients)

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:muscle biopsy shows endplate myopathy (see details under neurologic heading)

•

en:mitochondria dna deletion

•

en:muscle atrophy, diffuse, severe

•

en:muscle activity is electrically silent on emg

•

en:mitochondrial respiratory chain complex i, ii, and iii defect

•

en:lower limb atrophy

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:loss of ambulation (in some patients)

•

en:myopathy, mild

•

•

en:lipid storage, mainly in type i fibers

•

en:muscle weakness trunk

•

en:slowly progressive limb-girdle myopathy

•

en:myopathy, nonprogressive

•

en:subsarcolemmal accumulation of normal mitochondria (in some patients)

•

en:weakness of the intrinsic hand muscles (in some patients)

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:virtually no active movement at birth (wws)

•

en:variable fiber size

•

en:upper limb muscle hypoplasia

•

en:umbilical cord bleeding

•

en:type i fibers with large, irregularly polygonal congophilic hyaline masses and nemaline rods consistent with nonlysosomal protein degradation

•

en:type 1 fiber predominance

•

en:rupture of muscle

•

en:myositis (in some patients)

•

en:rhabdomyolysis, episodic

•

en:retroperitoneal fibrosis (rare)

•

en:repetitive response to single nerve stimulus

•

en:quadriceps aplasia

•

en:proximal muscles more often affected

•

en:nonspecific myopathy seen on biopsy

•

en:nonspecific myopathic changes seen on biopsy

•

en:neurogenic changes seen on emg

•

en:large hypertrophied fibers

•

en:decreased muscle mass in the thighs

•

en:increased focal mitochondrial density

•

en:calf muscle weakness

•

en:decreased mitochondrial respiratory chain complex activity

•

en:decreased mitochondrial complex v activity

•

en:decreased coenzyme q10 content

•

en:decreased activity of cytochrome c oxidase seen on muscle biopsy

•

en:cox-deficient fibers

•

en:contractures of distal lower limbs

•

en:centralized nuclei may be seen

•

en:by fourth decade, many patients need help with ambulation

•

en:decremental response of compound muscle action potential on repetitive nerve stimulation

•

en:autophagic rimmed vacuoles

•

en:attacks precipitated by potassium

•

en:atrophy, mild (in some cases)

•

en:adhalin deficiency seen on muscle biopsy

•

en:acquire ability to walk and jump in childhood, but motor regression occurs later

•

en:absence of pectoralis minor muscle

•

en:absence of caveolin-3 staining

•

en:z-disks with abnormal homogeneous material

•

en:decreased numbers of postsynaptic nerve terminals at the neuromuscular junction

•

en:degenerative changes with increased connective tissue

•

en:increased fibrosis (family a)

•

en:fatty replacement

•

en:immunoreactivity for z-disk proteins

•

en:imaging shows muscle atrophy and fatty replacement

•

en:hypoplasia of supraspinatus muscle

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:hip abductor weakness and atrophy

•

en:gluteal hypoplasia

•

en:generalized hypotonia

•

en:forearm muscle weakness

•

•

en:depletion of mitochondrial dna

•

en:exercise-induced weakness

•

en:endplate myopathy

•

en:emg shows myopathic pattern

•

en:easy fatigability with exercise

•

en:distal muscle weakness and atrophy

•

en:distal muscle wasting, mild

•

en:distal muscle atrophy due to peripheral neuropathy, lower limbs more affected than upper limbs

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:wrist swelling

•

en:axial muscle weakness

•

en:combined oxidative phosphorylation deficiency 12

•

en:muscle weakness, distal and proximal, lower limbs (1 family)

•

en:nemaline bodies are rarely intranuclear

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)

•

en:myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)

•

en:muscle weakness, severe, diffuse

•

en:muscle weakness, severe

•

en:muscle weakness, limb-girdle, mild

•

en:muscle hypertrophy may occur

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:muscle biopsy with small a-fibers, increased pas-positive material, and ringbinden (disoriented myofibrils)

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:muscle biopsy shows dystrophic features

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:muscle amyotrophy

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:minimal subcutaneous fat

•

en:marked variability of fiber size

•

en:nonspecific myopathy

•

en:poor head control

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:swelling of the hands and feet (in 1 patient)

•

en:mitochondrial myopathy, infantile, transient

•

en:weakness of all intrinsic hand muscles (later)

•

en:vacuoles in the myofiber cytoplasm

•

en:uterine muscle may be stiff during pregnancy

•

en:unable to walk

•

en:trunk muscle atrophy

•

en:thenar amyotrophy (rare)

•

en:symmetrical muscle wasting

•

en:spontaneous muscle activity

•

en:protein aggregates immunopositive for actin and desmin

•

en:small round skeletal muscle fibers

•

en:secondary loss of achr from junctional folds seen on muscle biopsy

•

en:rupture of tendon

•

en:rounded, atrophic fibers (family a)

•

en:retain some mechanical adipose tissue (joints, orbits, palms, soles)

•

en:reduced muscle bulk

•

en:reduced lower limb subcutaneous fat

•

en:proximal muscle weakness (85% of patients)

•

en:loss of achr

•

en:neonatal hypotonia

•

en:increased mitochondria with abnormal cristae

•

en:cellulitis due to immunodeficiency

•

en:dystrophic changes seen on muscle biopsy

•

en:distal limb muscle atrophy (less common)

•

en:difficulty climbing stairs, jumping, running

•

en:dependent edema after excess fat has been present for several years

•

en:decreased muscle density on imaging

•

en:decreased glycosylation of alpha-dystroglycan

•

en:decreased activity and protein levels of respiratory chain complexes i, ii, iii, and iv

•

en:cox-negative fibers seen on muscle biopsy

•

en:both type 1 and type 2 fiber predominance has been reported

•

en:edema of dorsum of hands and feet

•

en:axial weakness

•

en:attacks precipitated by rest after exercise

•

en:attacks of weakness

•

en:atrophy of the thenar and hypothenar muscles

•

•

en:alimentary edema

•

en:absence of some scapular muscles (less common)

•

en:increased lysosomal glycogen

•

en:easy fatigability

•

en:absence of necrosis

•

en:electron microscopy showed z-disk streaming

•

en:generalized muscular appearance from birth

•

en:emg shows increased insertion activity and fibrillation

•

en:increased internal nuclei (in some patients)

•

en:increased fibrosis (in some patients)

•

en:impaired heel-walking

•

en:hypotonia, neonatal, severe (hcs)

•

en:hypoplasia of the hand muscles (29%)

•

en:hypoplasia of serratus anterior muscle

•

en:hip flexor weakness

•

en:increased internal nuclei seen on muscle biopsy

•

en:generalized muscle weakness

•

en:gastrocnemius and soleus muscles most affected

•

en:exertional leg pain

•

en:exercise intolerance (patient a)

•

en:evidence of reinnervation seen on emg (1 family)

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:endplate abnormalities

•

en:emg shows spontaneous, repetitive electrical activity ('myotonic runs')

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:muscular stiffness

•

en:muscular dystrophy (in some patients)

•

en:muscular fasciculation

•

en:nonspecific myopathic changes without dystrophic or inflammatory changes seen on muscle biopsy

•

•

en:myopathic episodes triggered by exercise, fasting, infection, cold temperatures

•

en:myopathy seen on emg

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:mtdna depletion seen on muscle biopsy

•

en:muscle paralysis, episodic

•

en:muscle weakness, upper and lower limbs

•

en:muscle weakness, severe, proximal and distal

•

en:muscle weakness, proximal more than distal

•

en:muscle weakness, proximal, distal, and axial, severe

•

en:muscle biopsy shows type i fiber predominance

•

en:muscle biopsy shows abnormal mitochondria

•

en:muscle atrophy, mild

•

en:multiple rimmed vacuoles seen on biopsy (in some patients)

•

en:patients may have distal or proximal muscle weakness, or both

•

en:normal phosphorylase kinase activity in muscle

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:pectoralis muscles may be less involved, leading to inward shrugging posture

•

en:skeletal muscle damage

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:abnormality of skeletal muscle fiber size

•

en:variation in skeletal muscle fiber diameter

•

en:thick palmar fascia

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:streaming of the z-disk seen on electron microscopy

•

en:some patients become wheelchair-dependent

•

en:slim, muscular build (in some patients)

•

en:scapuloperoneal amyotrophy

•

en:preserved heel standing

•

en:rhabdomyolysis may occur

•

en:reduced muscle mass

•

en:quadriceps weakness

•

en:quadriceps atrophy (later onset)

•

en:proximal upper limb amyotrophy

•

en:proximal muscle weakness, mild (in some patients)

•

en:proximal limb muscle weakness (occurs later)

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:minicores or core-like regions may be present

•

en:increased endomysial connective tissue

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:congenital myopathy (in one patient)

•

en:distal lower limb amyotrophy

•

en:distal limb muscle weakness, lower more than upper

•

en:decremental response to repetitive nerve stimulation

•

en:decreased muscle mass (especially in lower limbs)

•

en:decreased muscle bulk (in one patient)

•

en:decreased caveolae in muscle tissue

•

en:decreased activities of mitochondrial complexes i, iii, and iv

•

en:congophilic inclusions

•

en:chronic weakness

•

en:distal muscle atrophy due to neuropathy

•

en:cellulitis in lower limbs, recurrent

•

en:calf hypertrophy (less common)

•

en:aggregates contain granular electron-dense material

•

en:absence of spontaneous activity at birth (severe form)

•

en:absence of merosin in muscle

•

en:abnormal size and shape of synaptic endplates

•

en:abnormal axons with sprouting and swelling

•

en:abdominal muscle hypoplasia

•

en:distal muscle atrophy due to denervation

•

en:distal muscle atrophy of the lower limbs secondary to peripheral neuropathy

•

en:lymphedema of upper and/or lower limbs (in some patients)

•

•

en:leg cramps may occur with exercise

•

en:lack of integrin alpha-7 staining

•

en:infantile muscular hypotonia

•

en:increased muscle tone (early in life)

•

en:increased fatty infiltration

•

en:increased endomysial connective tissue around muscle fibers

•

en:increased adipose fibrosis

•

en:hypothenar muscle atrophy

•

en:fiber size variation (in some patients)

•

en:distal muscle weakness due to neuropathy

•

en:fat pads on the hands and feet

•

en:facial edema

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:edema is present at birth and then slowly decreases

•

en:easy bruisability of lower extremities

•

en:dystrophic changes may be present

•

en:distal muscle weakness of the upper limbs (in some patients)

•

en:distal muscle weakness occurs later

•

en:abnormal changes in the organization of the sarcolemma and the subsarcolemmal membrane cytoskeleton

•

en:abnormal fatigue

•

en:abnormal subcutaneous fat tissue distribution

•

en:muscle biopsy shows decreased muscle-specific phosphorylase kinase activity

•

en:muscle weakness usually does not occur

•

en:muscle weakness may affect upper limbs

•

en:muscle weakness and atrophy, proximal

•

en:muscle weakness, proximal and distal (predominant lower limb involvement)

•

en:muscle weakness, lower limbs, during exercise

•

en:muscle wasting in lower limbs

•

en:muscle cramps at rest

•

en:muscle biopsy shows ragged red fibers

•

en:muscle biopsy shows 'spheroid bodies' in type 1 muscle fibers

•

en:myotonia, potassium-sensitive (may be responsive to acetazolamide)

•

en:muscle biopsy may show deficiency of multiple mitochondrial respiratory complexes

•

en:muscle atrophy later in the disease

•

en:mitochondrial proliferation

•

en:minicore regions are poorly defined and do not extend through entire fiber length

•

en:minicores extend full fiber diameter

•

en:mild atrophy of the proximal lower limbs

•

en:marked muscular hypertrophy

•

en:marked lack of adipose tissue

•

en:myofibrillar disorganization

•

en:neurogenic atrophy

•

en:loss of ambulation between third and sixth decade

•

en:proximal myopathy

•

en:abnormal z bands

•

en:widening of the synaptic cleft

•

en:swelling of the extremities, episodic

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:some abnormal aggregation of mitochondria

•

en:skeletal muscle shows dystrophic changes

•

en:rhabdomyolysis, episodic and recurrent

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:proximal muscle weakness in lower limbs

•

en:neuropathic process seen on muscle biopsy

•

en:proximal amyotrophy

•

en:prolonged endplate potentials

•

en:primarily affects lower limbs

•

en:preservation of visceral, neck, and axillary fat pads

•

en:potassium sensitivity has been reported

•

en:pelvic muscle involvement occurs later

•

en:normal or increased facial adipose tissue

•

en:normal alpha-glucosidase or acid maltase activity (gaa, 606800)

•

en:mallory-like bodies

•

en:welander distal myopathy

•

en:limb muscle weakness, proximal, upper and lower

•

en:congophilic staining

•

en:difficulty raising arms

•

en:deposition of complement proteins c5b-9 of the membrane attack complex on muscle fibers

•

en:degenerative features seen on muscle biopsy

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:decreased thiamine pyrophosphate

•

en:decreased muscle mitochondrial aconitase

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:decreased activity of mitochondrial respiratory complexes i, iii, and iv in muscle tissue

•

en:cold sensitivity has been reported

•

en:distal muscle atrophy due to neurologic disease

•

en:axial muscle hyperextension, episodic

•

en:autophagic vacuoles seen on biopsy (in some patients)

•

en:atrophy of type i fibers

•

en:atrophy of neck muscles may occur later

•

en:accumulation of pas-positive polyglucosan material seen on muscle biopsy

•

en:accelerated decay of the synaptic current

•

en:absence of muscle pseudohypertrophy

•

en:limb-girdle muscle weakness, proximal, upper greater than lower

•

en:distal leg muscle atrophy

•

en:absence of laminin alpha-2 chain in muscle

•

en:distal muscle atrophy due to peripheral neuropathy of upper and lower limbs

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:increased numbers of type 1 fibers

•

en:increased muscle glycogen content

•

en:increased intramuscular fat

•

en:hypotonia (45%)

•

en:hypotonia, generalized (in some patients)

•

en:hypoplasia of cervical paravertebral muscles

•

en:lack of facial subcutaneous fat

•

en:hyaline plaques with absent oxidative activity

•

en:emg shows polyphasic continuous motor unit discharges

•

en:focal degeneration of junctional folds ('honeycombed' appearance) see on muscle biopsy

•

en:edema at birth

•

en:easily fatigued (finding)

•

en:excess fat, symmetrically located in buttocks and lower extremities to ankles

•

en:exercise-induced muscle fatigue

•

en:fiber-type grouping pattern

•

en:finger and wrist extensor weakness

•

en:mri shows increased connective tissue and fat

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:mildly increased mtdna

•

en:mild kinetic abnormalities of the achr (in some patients)

•

en:mild muscle weakness

•

en:mitochondrial complex iii deficiency (disorder)

•

en:mitochondrial dna depletion, severe

•

en:lymphedema (lower limb)

•

en:muscle atrophy, mild, more proximal than distal

•

en:multi-core congenital myopathy

•

•

en:muscles become hard and tender during exercise

•

en:muscle atrophy (variable)

•

en:muscle biopsy shows enlargement of type i muscle fibers, consistent with denervation

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes

•

en:muscle biopsy shows pleomorphic hyaline, granular, and amorphous deposits that stain with gomori trichrome

•

en:lymphangiectasia

•

en:muscle hematoma

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:lower limb muscle hypotrophy

•

en:increased connective tissue and fat in muscles

•

en:muscle weakness, episodic

•

en:gowers sign present

•

en:grip strength decreased

•

en:group fiber atrophy (in some patients)

•

en:hang weakness

•

en:hypotonia (patient b)

•

en:hypotonia at birth

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:increased fibrosis

•

en:loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs

•

en:increased variation in fiber size (in some patients)

•

•

en:lafora bodies (accumulation of polyglucosan) seen on skeletal muscle biopsy

•

en:large lipid droplets

•

•

en:limb muscular atrophy

•

en:lipoatrophic appearance

•

en:loss of independent ambulation around age 12 years

•

en:muscle pain (in some patients)

•

en:progressive widening of synaptic clefts that are filled with amorphous debris seen on muscle biopsy

•

en:muscle weakness, mainly proximal

•

en:thickened subcutaneous tissue

•

en:relatively preserved limb strength

•

en:rimmed vacuoles with basophilic granular material

•

en:shortened open achr channel duration

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:skeletal myopathy

•

en:stiffness (uncommon)

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria

•

en:pyruvate oxidation defect

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:usually a unilateral disorder

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:vacuolar myopathy may occur

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

en:waddling gait

•

•

•

en:ragged red fibers, mainly in type i fibers seen on skeletal muscle biopsy

•

en:proximal muscle weakness, limb-girdle distribution

•

en:muscle weakness, mild, proximal and distal

•

en:myopathic pattern seen on emg

•

en:muscle weakness, proximal, slowly progressive

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle weakness in forearm muscles

•

en:muscular atrophy

•

en:myoclonic spasms

•

en:myofibrillar myopathy

•

en:myopathic changes seen on emg

•

en:myopathic findings on biopsy have been occasionally reported

•

en:myopathy in approximately 45% of patients

•

en:prolonged achr channel opening episodes

•

en:nemaline rods may be observed

•

en:normal histopathology seen on muscle biopsy (in some patients)

•

en:painful muscle cramps

•

en:pelvic girdle muscle atrophy

•

en:peroneal muscle atrophy

•

en:poor muscle mass

•

en:preserved nerve terminals seen on muscle biopsy

•

en:progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters)

•

en:generalized muscle weakness, proximal and distal

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7118917 • caches: c1=6 c2=1003 c3=1

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