Le Diko - en:hypoplasia of serratus anterior muscle

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Le Diko - en:hypoplasia of serratus anterior muscle

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le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

(id=7119762)

en:hypoplasia of serratus anterior muscle

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:redundancy of basal lamina with accumulated debris

•

en:muscle cramps at rest

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:increased endo- and perimysial connective tissue

•

en:hypotonia, axial, severe

•

en:fiber-type predominance seen on muscle biopsy (in some patients)

•

en:sparing of anterior tibialis muscle

•

en:ragged red fibers seen on biopsy

•

en:muscle biopsy shows type i fiber predominance

•

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

•

en:mri shows fatty replacement

•

en:hypotonia (in some patients)

•

en:gowers sign (in some patients)

•

en:chronic denervation/reinnervation seen on emg

•

•

en:muscle biopsy shows ragged red fibers

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

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

•

en:mitochondria show paracrystalline inclusions

•

en:lipohypoplasia, regional

•

en:hypotonia (families a and b)

•

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

•

en:biceps brachii atrophy

•

en:absence of caveolin-3 staining

•

en:wasting of calf muscles (rare)

•

en:spontaneous muscle activity

•

en:proximal limb muscle weakness (occurs later)

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:hypotonia, mild (1 patient)

•

en:distal muscle weakness, predominantly lower limbs

•

en:decreased cytochrome c oxidase activity

•

en:abnormal muscle fibers with amorphous, granular, or hyaline deposits

•

en:muscle weakness in forearm muscles

•

en:muscle biopsy shows myofibrillar disruption

•

en:muscle biopsy shows dystrophic features

•

en:mild proximal muscle weakness (<10% of patients)

•

en:increased subcutaneous truncal adipose tissue

•

en:head drop due to neck muscle weakness

•

en:edema of hands and feet (in some patients)

•

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

•

en:decremental cmap response to repetitive nerve stimulation

•

en:decreased mitochondrial respiratory chain complex activity

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:muscle biopsy shows neurogenic atrophy

•

en:mild muscular hypotonia

•

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

•

en:edematous hands and feet (1 patient)

•

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

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:atrophy of the muscles in the anterior compartment of the lower leg

•

en:variable fiber size

•

en:signs of denervation seen on biopsy

•

en:sarcomere disappearance seen on muscle biopsy

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:muscle atrophy (variable)

•

en:lack of facial subcutaneous fat

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:generalized muscle weakness, severe

•

en:degenerating junctional folds

•

en:tubular aggregates seen on biopsy

•

en:neurogenic changes seen on emg

•

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

•

en:muscle biopsy shows myofibrillar changes

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:hypotonia, severe, persistent

•

en:gluteus maximus and thigh adductors most affected

•

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

•

en:cervical muscle weakness

•

en:bilateral facial weakness (congenital form)

•

en:reduced muscle tone

•

en:painful swelling in fasciae

•

en:firm muscles

•

en:emg shows myopathic features

•

en:edema (hands and feet)

•

en:edema, subcutaneous, generalized

•

en:atrophic calf muscles

•

en:thin musculature

•

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

•

en:muscle fiber necrosis

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:fragmentation of the neuromuscular junction with pre- and postsynaptic defects

•

en:facial diplegia

•

en:emg shows increased insertion activity and fibrillation

•

en:difficulty raising arms

•

en:congophilic amyloid material

•

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

•

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

•

•

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

•

en:pectoralis major hypoplasia

•

en:no ragged-red fibers

•

en:muscle biopsy shows small rounded fibers

•

en:increased perisarcolemmal calcium deposition

•

en:hypoplasia of infraspinatus muscle

•

en:hyperactive deep tendon reflexes

•

en:generalized amyoplasia

•

en:dorsal and flexor muscles of the forearm are involved

•

en:disruption of sarcomeres with disorganization of the z band

•

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

•

en:calf hypertrophy (uncommon)

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

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

•

en:lipodystrophy (in some patients)

•

en:floppy infant syndrome

•

en:fiber size variation

•

en:decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation seen on emg

•

en:upper limb involvement may occur later

•

en:swelling of the affected areas

•

en:shortening of various muscle-tendon groups in legs

•

en:shortened acetylcholine receptor (achr)-induced ion channel opening

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:muscle weakness usually does not occur

•

en:muscle cramps may affect jaw muscles

•

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

•

en:giant granules in muscle cells

•

en:easy fatigability with exercise

•

en:distal muscle weakness in lower limbs, severe

•

en:decreased achr

•

en:chronic weakness

•

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

•

en:small atrophic fibers (in some patients)

•

en:rounded, atrophic fibers (family a)

•

en:muscle biopsy shows dystrophic changes

•

en:muscle atrophy in the limbs

•

en:mitochondrial myopathies

•

en:limb weakness, proximal followed by distal

•

en:distal muscle weakness due to peripheral neuropathy

•

en:decreased activity of mitochondrial complex i

•

en:axial muscle hyperextension, episodic

•

en:abnormal subcutaneous fat tissue distribution

•

en:severe muscle wasting and atrophy, primarily in the legs

•

en:necrotic changes (finding)

•

en:myopathy in approximately 45% of patients

•

en:muscle weakness and atrophy may be asymmetric

•

•

en:lower and upper limbs affected

•

en:limb weakness and atrophy

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:decreased hand grip strength

•

en:cytoplasmic inclusion bodies (finding)

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:muscle weakness (cvs+)

•

en:lower limb muscle weakness (in 2 of 3 families)

•

en:lipoatrophy (lower face, upper limb, buttock)

•

en:lipid droplets seen on muscle biopsy

•

•

en:fatty degeneration of muscle seen on mri

•

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

•

en:denervation of skeletal muscles

•

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

•

en:congophilic staining

•

en:attacks last 4 to 24 hours

•

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

•

en:weakness of anterior compartment tibial muscles

•

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

•

en:weakness and wasting of the lower limbs

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:tubular aggregates mainly in type 2 fibers and are subsarcolemmal or intermyofibrillar and stain for nadh-tetrazolium reductase

•

en:tibialis anterior muscle affected

•

en:thin filament shortening and disorganization (in some patients)

•

en:small type ii fibers

•

en:small nerve terminals

•

en:small miniature endplate currents (mepc)

•

en:secondary loss of merosin and desmin

•

en:scapuloperoneal weakness

•

en:rupture of muscle

•

en:relative sparing of the tibialis anterior

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:recovery between attacks

•

en:ragged red fibers (in some patients)

•

en:ragged-red fibers on muscle biopsy

•

en:proximal muscle weakness in lower limbs

•

en:proximal muscle weakness

•

en:proximal and distal muscle atrophy in lower limbs

•

en:prolonged achr channel opening episodes

•

en:progressive loss of facial adipose tissue

•

en:progression to proximal muscle weakness

•

en:positive staining for complement c5b-9 membrane attack complex proteins within vacuoles, but not on muscle fiber membrane

•

en:poor head control

•

en:no lipodystrophy in face and neck

•

en:no dystrophic changes

•

•

en:myopathy with abnormal lipid metabolism

•

en:myofibrillar disorganization

•

•

en:muscle hypertrophy may occur

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

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

•

en:muscle biopsy shows myopathic changes

•

en:muscle biopsy shows loss of myofibrillar organization

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:muscle biopsy shows grouped atrophy

•

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

•

en:muscle biopsy shows dystrophic pattern

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:muscle atrophy, distal, particularly affecting the hands muscle biopsy shows variation in fiber size

•

en:muscle amyotrophy

•

en:mitochondrial myopathy, severe

•

en:mild weakness

•

en:mild distal muscle atrophy

•

en:marked muscular hypertrophy

•

en:mallory-like bodies

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:lower limbs more often affected

•

en:loss of truncal subcutaneous adipose tissue

•

en:limb muscle weakness, proximal, upper and lower

•

en:internal nuclei seen on muscle biopsy

•

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

•

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

•

en:increased muscle tone, neonatal (in severely affected patients)

•

en:increased internal nuclei seen on muscle biopsy

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:increased fibrosis

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:hypotonia (patients a and c)

•

en:hypotonia (45%)

•

en:hypotonia, neonatal and later

•

en:hypotonia, generalized (in some patients)

•

en:hyaline inclusion

•

•

en:hematomas, recurrent large subcutaneous

•

en:fibromyalgia

•

en:fatty replacement

•

en:fatty infiltration of affected muscles

•

en:facial muscle atrophy of involved side

•

en:exercise-induced weakness

•

en:excessive neutral fat and free fatty acids in type-i fibers

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:endomysial fibrosis

•

en:emg shows myopathic pattern

•

en:emg shows myopathic and neurogenic changes

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae

•

en:edema is present at birth and then slowly decreases

•

•

en:distal myopathy (in 1 family)

•

en:distal muscle wasting, mild

•

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

•

en:distal muscle atrophy (1 patient)

•

en:distal muscle atrophy, predominantly lower limbs

•

en:distal muscle atrophy, affecting the lower limbs

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:difficulty walking and climbing stairs (patient a)

•

en:difficulty running or inability to run

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

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

•

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

•

en:decreased muscle succinate dehydrogenase

•

en:decreased muscle action potential after warming affected muscle

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

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

•

en:decreased activities of several mitochondrial respiratory enzymes

•

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

•

en:cox-negative fibers

•

en:cores contain densely packed myofilaments

•

en:cellulitis in lower limbs, recurrent

•

en:buffalo hump (rare)

•

en:biopsy shows myopathy without vacuoles

•

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

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:abnormal distribution of subcutaneous fat

•

en:abnormal aggregates of desmin and filamin c

•

en:z-disk degeneration

•

en:weakness of ankle plantar flexion

•

en:walking may be limited

•

en:variation of fiber size and shape

•

en:upper and/or lower limbs may be affected

•

en:tubular aggregates mainly in type 1 fibers

•

en:tremors subside over the first 2 to 3 months of life

•

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

•

•

en:small or absent axon terminals

•

en:skeletal muscle shows dystrophic changes

•

en:skeletal muscle biopsy shows reducing bodies

•

en:secondary myopathic features

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:scapular muscle weakness

•

en:rimmed vacuoles

•

en:reduced muscle bulk

•

en:ragged-red fibers seen on muscle biopsy

•

en:quadriceps aplasia

•

en:proximal muscle weakness occurs later

•

en:progressive interictal weakness is common

•

en:progression to wheelchair in fourth decade

•

en:preserved heel standing

•

en:poor musculature

•

en:poor muscle bulk

•

en:poor exercise tolerance

•

en:peripheral edema

•

•

en:normal muscle fiber (hcs)

•

en:normal lamp2 staining (309060)

•

en:neurogenic abnormalities seen on emg

•

en:neck muscle hypoplasia

•

en:myotonia is present in majority of cases

•

en:myopathy seen on emg

•

en:myopathic changes on pathology

•

en:myofibrillar disintegration

•

en:myasthenic syndrome (hcs)

•

en:myalgia with febrile episodes (rare)

•

en:myalgia, episodic

•

en:muscular stiffness

•

en:muscle weakness of limb

•

en:muscle weakness associated with fasting or infection

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:muscle wasting due to chronic denervation

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle hyperirritability

•

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

•

en:muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers

•

en:muscle activity is electrically silent on emg

•

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

•

en:mri of the thighs shows fatty atrophy with preservation of the biceps femoris in the lateral compartment

•

en:mri may show cervical spinal cord atrophy

•

en:mitochondrial dna deletion (1 patient)

•

en:minicores or core-like regions may be present

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:many fibers with internal nuclei

•

en:internal nuclei seen on biopsy (in some patients)

•

en:increased t-2 signal in muscles of lower extremities on mri (in some patients)

•

en:increased muscle tone (early in life)

•

en:increased mitochondria seen on muscle biopsy

•

en:increased echo intensity in affected muscles

•

en:inclusions are tdp43-immunoreactive

•

•

en:hyporeflexia

•

en:hypertonicity of the lower limbs

•

en:hypertonia late

•

en:hypertonia at birth

•

en:hip flexor weakness

•

en:hamstring and quadriceps muscles mildly affected

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:finger and wrist extensor weakness

•

en:fat pad anterior to malleolus

•

en:fatty replacement in hip muscles and proximal muscles of the lower limb seen on mri

•

en:fatty infiltration

•

en:extensor finger muscle weakness

•

en:exertional leg pain

•

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

•

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

•

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

•

en:disuse atrophy

•

en:distal skeletal muscle atrophy (after long disease duration)

•

en:distal muscle weakness, affecting the lower limbs

•

en:distal muscle wasting due to peripheral neuropathy

•

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

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:distal lower limb anterior compartment weakness

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:distal limb muscle weakness (less common)

•

en:distal amyotrophy (hands and feet)

•

en:disorganization of the neuromuscular junction

•

en:degeneration of junctional folds

•

en:decreased muscle density on imaging

•

en:decreased lactate clearance from muscle after exercise (reported in 1 patient)

•

en:decreased activity of mitochondrial complexes i and iv

•

en:decreased achilles reflex

•

en:contractures of upper limbs (in some patients)

•

en:calf atrophy (later onset)

•

en:biopsy shows defects in pyruvate oxidation

•

en:a subset of patients have aggravation on cold exposure ('cold paresis')

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:atrophic muscle fibers

•

•

en:ankle reflex absent

•

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

•

en:absence of laminin alpha-2 chain in muscle

•

en:'sloping' shoulders due to muscle atrophy

•

en:weakness of neck extensors (rare)

•

•

en:virtually no active movement at birth (wws)

•

en:variation of myofiber diameter

•

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

•

en:vacuolar degeneration

•

en:usually no myopathic changes on biopsy

•

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 fibers are at least 12% smaller than type 2 fibers

•

en:thenar eminence hypoplasia

•

en:spheroid bodies are composed of fine filamentous (myofibrillar) material

•

en:small rounded fibers

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:shoulder weakness

•

en:shoulder girdle weakness

•

en:shortened open channel duration

•

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

•

en:sarcoplasmic inclusions

•

en:rimmed vacuoles on biopsy

•

en:prominent musculature

•

en:prominent involvement of the quadriceps femoris muscles

•

en:prolonged endplate potentials

•

en:poor muscle mass

•

en:plaques immunoreactive for desmin and alpha-beta-crystallin

•

en:percussion myotonias

•

en:pelvic girdle weakness

•

en:patients achieve independent ambulation, but may lose it

•

en:onset of lymphedema around puberty

•

en:neonatal edema (in some patients)

•

en:nemaline bodies (rods) on gomori trichrome staining

•

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

•

en:myotonic discharges

•

en:myopathic features seen on biopsy

•

en:muscular hypotonia of the trunk

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:muscle weakness (hcs)

•

en:muscle weakness (affecting lower proximal extremities, abdominal wall, and iliopsoas muscle)

•

en:muscle weakness, mild, proximal and distal

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle fatigue

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscle biopsy shows angular atrophic fibers with granulovacuolar material (in some patients)

•

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

•

en:muscle atrophy, mild, more proximal than distal

•

en:muscles have a woody consistency on palpation

•

en:mitochondrial swelling

•

en:minimal subcutaneous fat

•

en:mild atrophy of the proximal lower limbs

•

en:lymphedema of lower extremity

•

en:lower limb muscle hypotrophy

•

en:lower limb muscle atrophy

•

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

•

en:loss of facial adipose tissue

•

en:loss of ambulation between third and sixth decade

•

en:lipomas or lipomatous masses (most cases)

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:increased lysosomal glycogen

•

en:increased fibrosis (in some patients)

•

en:inability to stand on tiptoes

•

en:impaired toe-walking

•

en:hypotonia at birth

•

en:hypotonia, severe, neonatal

•

en:hypoactive gag reflex

•

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

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:emg may showed myotonic discharges

•

en:dystrophic changes may be present

•

en:distal lower limb muscle weakness due to peripheral neuropathy

•

en:distal amyotrophy

•

en:difficulty walking

•

en:difficulty running

•

en:deglutition disorders

•

en:decrement of the compound muscle action potential on repetitive stimulation

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:decreased or absent ankle reflexes

•

en:decreased muscle mass (especially in lower limbs)

•

en:decreased mitochondrial respiratory complexes i and iv

•

en:decreased mitochondrial complex v activity

•

en:decreased glutamate oxidation (about 63% of normal)

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:congophilic inclusions

•

en:congenital muscular dystrophy (disorder)

•

en:combined mitochondrial respiratory chain deficiency (in most patients)

•

en:casq1-immunopositive inclusions

•

en:calf hypertrophy (less common)

•

en:broad-based gait

•

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

•

en:atrophy of upper girdle muscles

•

en:asymmetric muscle involvement

•

en:areflexia due to muscle weakness

•

•

en:amyotrophy, distal, upper and lower limbs

•

en:absence of telethonin protein

•

en:z-band streaming

•

en:vacuoles in the myofiber cytoplasm

•

en:ubiquinone decreased

•

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

•

en:tubular aggregates in muscle fibers may occur

•

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

•

en:tortuous lymphatic tracts

•

en:thickened subcutaneous tissue

•

en:thenar muscle atrophy

•

en:subsarcolemmal mitochondrial accumulation

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk

•

en:skeletal muscle tissue shows depletion of mitochondrial dna (mtdna)

•

en:shortening of various muscle-tendon groups in feet

•

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

•

en:rupture of tendon

•

en:rhabdomyolysis with exercise (in older patients)

•

en:repetitive action potentials in response to single nerve stimulation

•

en:reduced subcutaneous fatty tissue

•

en:reduced lower limb subcutaneous fat

•

en:rectus abdominis muscle separation

•

en:proximal muscle weakness, lower limbs, mild

•

en:prominent veins, lower limbs

•

en:progressive muscle weakness

•

en:presynaptic defect at the neuromuscular junction

•

en:preserved junctional structure seen on muscle biopsy

•

en:postsynaptic abnormalities

•

en:positive staining for atpase activity at ph of 4.3

•

en:painful swelling in aponeuroses

•

en:normal dystrophin immunostaining

•

en:nonspecific muscle fiber atrophy

•

en:neurogenic changes

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:myotonic discharges in the absence of clinical myotonia seen on emg

•

en:myotonia seen on emg

•

en:myotonia (delayed muscle relaxation after contraction)

•

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:myopathy, nonprogressive

•

en:myopathic pattern on emg

•

en:myopathic features seen on emg

•

en:myopathic changes seen on emg and muscle biopsy

•

en:muscle weakness, proximal, limb-girdle

•

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

•

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

•

en:muscle weakness, particularly of the lower limbs

•

en:muscle pain and cramping on exertion

•

en:muscle fibers appear as fetal myotubules

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:muscle biopsy shows no dystrophic changes

•

en:muscle biopsy shows lipid droplets

•

en:muscle biopsy shows glycogen storage

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:muscle atrophy, severe

•

en:muscle atrophy, diffuse, severe

•

en:lymphedema, dorsa of feet

•

en:lymphangitis, episodic

•

en:low muscle mass

•

en:loss of subcutaneous fat, diffuse

•

en:loss of adipose tissue occurs around puberty

•

en:loss of ability to walk in early childhood

•

en:limb-girdle muscle weakness

•

en:levator palpebrae superioris atrophy

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients)

•

en:increased staining for myotilin, dystrophin, desmin

•

en:increased opening duration of acetylcholine receptor (achr)-induced ion channels

•

en:increased number of endplate regions distributed over increased span of muscle fiber

•

en:increased focal mitochondrial density

•

en:inability to stand or walk (in severe cases)

•

en:hypotonia from birth to age 12

•

en:hyporeflexia of lower limbs

•

en:glycogen depletion in skeletal muscle

•

en:generalized muscle weakness, proximal and distal

•

en:fibrillations in affected muscles

•

en:exercise intolerance (patient a)

•

en:exercise capacity decreased

•

en:exercise-induced muscle fatigue

•

en:emg shows neurogenic changes

•

en:emg shows fasciculations

•

en:electron microscopy shows dense material emanating from the z-disk

•

en:electron microscopy showed z-disk streaming

•

en:edema of dorsum of hands and feet

•

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

•

en:difficulty standing

•

en:difficulty running and jumping

•

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

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:decremental muscle response to repetitive nerve stimulation

•

en:decremental cmap response to repetitive nerve stimulation seen on emg

•

en:decreased postsynaptic length

•

en:decreased numbers of achr seen on muscle biopsy

•

en:decreased glycosylation of alpha-dystroglycan

•

en:decreased endplate potential and amplitudes

•

en:decreased adipose tissue around neck

•

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

•

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

•

en:decreased achr at the endplate

•

en:congenital myasthenic syndrome (reported in 1 patient who survived to age 20 years)

•

en:congenital fiber type disproportion

•

en:centralized nuclei, rare

•

en:calcium accumulation in junctional folds seen on muscle biopsy

•

en:buffalo hump

•

en:biopsy muscle normal

•

en:biceps aplasia

•

en:ascites (in some patients)

•

en:affected muscles show atrophy

•

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

•

en:acute rhabdomyolysis

•

en:abnormal sarcoplasmic reticulum elements

•

en:hypoplasia of latissimus dorsi muscle

•

en:wheelchair dependency in 20% of patients by age 40

•

en:umbilical hernia

•

en:type 1 fiber predominance

•

en:toe and foot dorsiflexor weakness

•

en:thickening of fascia of forearm

•

en:tendon tears

•

en:subsarcolemmal mitochondrial aggregates

•

en:subcutaneous lipomatous tissue

•

en:secondary decrease of calpain-3 (capn3, 114240) protein expression in muscle

•

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

•

en:repetitive response to single nerve stimulus

•

en:relative muscle weakness, especially in pelvic girdle

•

en:red-ragged fibers (2p21del)

•

en:quadriceps atrophy

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:proximal muscles may be mildly affected

•

en:protein aggregates immunopositive for actin and desmin

•

en:progressive proximal muscle involvement

•

en:predominantly lower limb lymphedema

•

en:normal neonatal period may occur before weakness is apparent

•

en:neuropathic process seen on muscle biopsy

•

en:myxedematous appearance

•

en:myopathic changes seen on emg

•

en:myofibrillar myopathy

•

en:muscular weakness, improving in infancy (medical research council muscle score of 3 to 4)

•

en:muscle weakness is predominantly of extremities and tongue

•

en:muscle weakness and atrophy, proximal

•

en:muscle weakness, severe, diffuse

•

en:muscle weakness, mainly proximal

•

en:muscle weakness, episodic

•

en:muscle wasting (especially legs and arms)

•

en:muscle rigidity

•

en:muscle hypertrophy (meb)

•

en:muscle fiber immaturity

•

en:muscle fibers may contain abnormal polysaccharide

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:muscle atrophy appears later in disease course

•

en:muscle atrophy, upper and lower limbs

•

en:mri shows fatty infiltration of affected muscles

•

en:minicores extend full fiber diameter

•

en:lymphedema (lower limb)

•

•

en:lymphangiectasia

•

en:loss of sarcomeric striations

•

en:lipodystrophy, generalized, panniculitis-induced (in some)

•

en:lipoatrophy, generalized

•

en:lipoatrophic appearance

•

en:limb hypertonia

•

•

en:intracellular granular osmiophilic deposits

•

en:internal nuclei (in some patients)

•

en:increased intramuscular fat

•

en:increased fat and fibrous tissue

•

en:hypotonia, severe (patient b)

•

en:hypoplasia of the hand muscles (29%)

•

en:hamstring muscle affected

•

en:foot dorsiflexor weakness

•

en:fat accumulation in the suprabuttock area

•

en:exercise intolerance (less common)

•

en:emg shows myotonic changes

•

•

en:dystrophic changes on biopsy

•

en:distal muscle weakness due to neuropathy

•

en:distal muscle weakness

•

en:distal lower limb amyotrophy

•

en:difficulty in toe walking

•

en:denuded postsynaptic regions

•

en:denervation seen on emg

•

en:degenerating nerve terminals

•

en:decreased activity of mitochondrial complexes i and iv seen on skeletal muscle biopsy

•

en:congenital myopathy (in one patient)

•

en:cap structures, when present, contain disorganized myofibrils and thickened z bands

•

en:calf hypertrophy (early in the disease)

•

en:axial hypotonia (in some patients)

•

en:attacks relieved by potassium administration

•

en:atrophy of shins

•

en:atrophy of anterior compartment tibial muscles

•

en:angular atrophic fibers

•

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

•

en:absence of myotonia in infancy (congenital form)

•

en:absence of merosin in muscle

•

en:abnormal mitochondrial morphology

•

en:abnormal fat accumulation below the triceps (in some patients)

•

en:abnormalities in myofibril organization

•

en:widening of the synaptic cleft

•

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

•

en:weakness of neck muscles may occur later

•

en:variation in fibrodiameter seen on muscle biopsy

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:vacuoles appear to be exocytosing material at the cell surface

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:trunk muscle atrophy

•

en:symptoms may be induced by heat

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy)

•

en:slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution

•

en:shoulder muscle weakness (in some patients)

•

en:short and thickened z-discs

•

en:severe muscular hypotonia

•

en:secondary loss of sarcolemmal caveolin-3

•

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

•

en:replacement of affected muscle tissue with fatty tissue

•

en:reduced postsynaptic cleft area

•

en:rectus medial atrophy

•

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

•

en:proximal muscle weakness and atrophy (may occur later)

•

en:proximal muscle weakness, less severe

•

en:proximal muscle involvement may occur

•

en:progressive distal muscle weakness

•

en:premature exertional muscle weakness

•

en:plasma membrane discontinuities

•

en:peroneal muscle weakness

•

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

•

en:pelvic girdle weakness and atrophy

•

en:pain or cramping during sustained manual activity

•

en:onset of weakness in hands and feet

•

en:no myofibrillar abnormalities or protein aggregation

•

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

•

en:nonspecific myopathic changes seen on biopsy

•

en:neuropathic or myopathic changes seen on emg

•

en:necrotic fibers

•

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

•

en:myopathic changes seen on biopsy

•

en:muscular dystrophy (in some patients)

•

en:muscle weakness and atrophy

•

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

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:muscle biopsy shows nemaline rods

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle biopsy shows abnormal mitochondria

•

en:muscle atrophy (type i)

•

en:muscles do not contract upon electrical stimulation

•

en:muscle, weakness, distal, hands and fingers (in some patients)

•

en:motor clumsiness

•

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

•

en:minimal muscle mass

•

en:mild variability in muscle fiber size

•

en:loss of subcutaneous adipose tissue in limbs

•

en:lipid accumulation in muscle tissue

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:limb-girdle myopathy

•

en:lack of integrin alpha-7 staining

•

en:involves upper and lower proximal muscles

•

en:increased variability of fiber size seen on muscle biopsy

•

en:increased centralized nuclei

•

en:inability to jump or squat

•

en:impaired mitochondrial respiration

•

en:hypotonia (cvs+)

•

en:hypotonia, profound

•

en:hypoplasia of supraspinatus muscle

•

en:hypoplasia of cervical paravertebral muscles

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:hyaline plaques with absent oxidative activity

•

en:humeroperoneal weakness and atrophy

•

en:generalized muscle weakness

•

en:flaccid neck

•

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

•

en:emg shows chronic denervation

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:edema at birth

•

en:easily fatigued (finding)

•

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

•

en:difficulty climbing stairs, jumping, running

•

en:degrading mitochondria

•

en:degenerating mitochondria

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:decreased thiamine pyrophosphate

•

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

•

en:chronic neurogenic changes seen on emg

•

en:calf muscle hypertrophy

•

en:attacks of weakness

•

en:areflexia of lower limbs

•

en:acquired partial lipodystrophy

•

en:absence of some scapular muscles (less common)

•

en:absence of collagen vi immunostaining

•

en:abnormal fiber size variation

•

en:abnormal fat accumulation in axillae (in some patients)

•

en:walking delay

•

en:variably decreased alpha-dystroglycan expression (dag, 128239)

•

en:vacuoles predominantly in type 2 fibers seen on muscle biopsy

•

en:upper limb weakness

•

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

•

en:underdeveloped muscles (in some patients)

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:shortening of the fascial structures of the palm and fingers

•

en:secondary myopathic changes

•

en:repetitive compound muscle action potentials (cmap) in response to single stimulus

•

en:proximal myopathy

•

en:proximal amyotrophy

•

en:primarily affects lower limbs

•

en:postexercise cmap amplitude facilitation

•

en:polyglucosan accumulation

•

en:pharyngeal muscle weakness

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:normal mitochondrial morphology (1 patient)

•

en:nerve conduction studies normal

•

en:nemaline bodies are rarely intranuclear

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:neck flexor weakness

•

en:myalgia (in some patients)

•

en:muscle weakness begins proximally

•

en:muscle weakness after cooling or on warming affected muscle

•

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

•

en:muscle weakness, lower limbs, during exercise

•

en:muscle pain and cramps following exercise

•

en:muscle hematoma

•

en:muscle fiber splitting (in some patients)

•

en:muscle fiber regeneration

•

en:muscle cramps (also seen in some heterozygotes)

•

en:muscle biopsy shows pas-positive glycogen-containing vacuoles

•

en:muscle biopsy shows multiple mitochondrial dna (mtdna) deletions

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

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

•

en:muscle atrophy (in some patients)

•

•

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

•

en:mitochondrial dna depletion, severe

•

en:mitochondrial complex iii deficiency (disorder)

•

en:lymphedema of the extremities

•

en:loss of subcutaneous fat

•

en:loss of independent ambulation around age 12 years

•

en:limb muscular atrophy

•

en:inflammatory cells absent

•

en:increased muscle tone at birth

•

en:increased mitochondria with abnormal cristae

•

en:increased glycogen

•

en:increased central nucleation

•

en:inclusions are dnajb6-immunoreactive

•

en:inability to run

•

en:hypotonia (patient b)

•

en:hypotonia (1 patient)

•

en:hyporeflexia in affected muscles

•

en:hypoplasia of muscle

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:hypertrophy of calves (in 3 of 6 patients)

•

en:hangrip myotonia

•

en:fragmented mitochondrial network

•

en:forearm muscle weakness

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:fiber size variation (in some patients)

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:exertional fatigue

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:enlarged nuclei with central pallor

•

en:emg consistent with chronic neurogenic disorder

•

en:distal lower limb muscle weakness

•

en:disorganization of the myofibrillar pattern

•

en:difficulty walking, running, climbing stairs

•

en:deep rerouting of lymph in lower limbs seen on lymphoscintigraphy

•

en:decremental compound muscle action potential on repetitive stimulation

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:decreased activity of mitochondrial complex iii

•

en:contractures of distal lower limbs

•

en:congophilic deposits

•

en:autophagic rimmed vacuoles

•

en:atrophic muscle fiber on biopsy

•

en:amorphous granulofilamentous material associated with z-discs

•

en:adiposis on mri

•

en:vacuolar myopathy may occur

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:tubulofilamentous inclusions

•

en:thigh hypertrophy

•

en:thickening of the fascial structures of the palm and fingers

•

en:some abnormal aggregation of mitochondria

•

en:small round skeletal muscle fibers

•

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

•

en:shoulder muscle hypoplasia

•

en:scattered necrotic fibers

•

en:rhabdomyolysis

•

en:pseudohypertrophy of muscle

•

en:proximal lower limb amyotrophy

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:polymyositis

•

en:pena-shokeir syndrome type i

•

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

•

en:paralysis of the lower limbs (later)

•

en:painful adipose tissue

•

en:no muscle fiber necrosis

•

en:normal or increased adipose tissue around the neck

•

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

•

en:muscle weakness of the face and neck, mild to moderate

•

en:muscle weakness and atrophy, progressive

•

en:muscle weakness (type i)

•

en:muscle weakness (in 90% of patients)

•

en:muscle weakness, proximal, pelvic girdle (in severe cases)

•

en:muscle weakness, distal (in some patients)

•

en:muscle strength and bulk is preserved

•

en:muscle shows lipid accumulation

•

en:muscle hypertrophy of the lower extremities

•

en:muscle hypertrophy

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

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

•

en:muscle biopsy shows myofibrillar myopathy

•

en:muscle biopsy shows groups of small angulated fibers consistent with denervation

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:muscle atrophy, primarily in the legs

•

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

•

en:minipolymyoclonus

•

en:mild muscle atrophy in forearm muscles

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:loss of ambulation (in some patients)

•

en:localized cellulitis

•

en:lack of antigravity movements (patient b)

•

en:independent walking may not be achieved

•

en:increased adipose fibrosis

•

en:hypotonia (2 patients)

•

en:hang weakness

•

en:hand muscle atrophy

•

en:gowers sign present

•

en:generalized weakness (adult-onset)

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:generalized amyotrophy

•

en:gastrocnemius and soleus muscles most affected

•

en:emg shows myopathic or neurogenic changes

•

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

•

en:electromyogram abnormal

•

en:easy fatigue

•

•

en:duchenne muscular dystrophy (dmd, 310200) in 'complex' form

•

en:distal muscle weakness may occur

•

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

•

en:distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles)

•

en:distal muscle atrophy due to neurologic disease

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:difficulty walking and climbing stairs

•

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

•

en:degenerating fibers

•

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

•

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

•

en:decreased muscle bulk

•

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

•

en:decreased lipoic acid

•

en:decreased density of calcium release units

•

en:decreased coenzyme q10

•

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

•

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

•

en:cytochrome c oxidase-negative fibers

•

en:cores of myofibrillar disruption with associated absence of mitochondria

•

en:cold sensitivity has been reported

•

en:calf pseudohypertrophy rare

•

en:calf muscle discomfort

•

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

•

en:attacks usually decrease or disappear after age 40 years

•

en:attacks precipitated by rest after exercise

•

en:atrophic fibers

•

en:angular fibers (in some patients)

•

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

•

en:amyloid deposition in muscle fibers occurs rarely

•

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

•

en:abnormal z bands

•

en:abnormally long mitochondria seen on muscle biopsy

•

en:enfeeblement of muscle

•

•

Hypotonie musculaire

•

•

•

en:ascending muscle weakness (beginning with feet and legs)

•

déficit en cytochrome oxydase

•

en:z-disks with abnormal homogeneous material

•

en:swelling of the hands and feet, episodic

•

en:subsarcolemmal hyaline bodies in 25-30% type i fibers only

•

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

•

en:sparing of small hand and finger muscles

•

en:some patients become wheelchair-dependent

•

en:small atrophic muscle fibers

•

en:skeletal muscle tissue shows 14 to 45% depletion of mitochondrial dna (mtdna)

•

en:rhabdomyolysis, episodic

•

en:proximal muscle weakness, upper and lower limbs, due to peripheral neuropathy, later in disease course

•

en:proximal muscle weakness, limb-girdle distribution

•

en:proximal lower limb muscle weakness, later (in some patients)

•

en:preserved junctional folds

•

en:poor muscle build

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:panniculitis

•

en:normal or increased abdominal adipose tissue

•

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

•

en:neurogenic changes seen on emg and biopsy

•

en:neonatal hypotonia

•

•

en:myopathic and neurogenic changes seen on emg

•

en:myogenic profile on electromyography

•

en:myofibroma (in 1 patient)

•

•

en:muscle weakness, variable

•

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

•

en:muscle wasting in lower limbs

•

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

•

en:muscle biopsy shows type 1 fiber predominance

•

en:muscle biopsy shows decrease or absence of cytochrome c oxidase

•

en:mitochondrial dna depletion (in some)

•

en:mildly decreased cytochrome c oxidase activity

•

en:marked lack of adipose tissue

•

en:lymphedema, hands (rare)

•

en:low maximum workload on exercise testing

•

en:loose connective tissue

•

en:limb-girdle muscular dystrophy

•

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

•

en:increased connective tissue and fat in muscles

•

en:hypotrophic type 2 muscle fibers

•

en:gowers sign (patient a)

•

en:gluteal hypoplasia

•

en:generalized muscle wasting

•

en:generalized muscle contractions, episodic

•

en:gait unsteady

•

en:focal areas of z-band disarray devoid of mitochondria seen on electron microscopy

•

en:fiber size variation seen on muscle biopsy

•

en:fat pad between achilles tendon and medial malleolus

•

en:exercise-induced muscle stiffness

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:dystrophic changes

•

en:distal muscle weakness, lower legs

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

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

•

en:distal limb muscle weakness, lower more than upper

•

en:depletion of mitochondrial dna

•

•

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

◀

•

en:hypoplasia of

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119762 • caches: c1=8 c2=1004 c3=1

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