Le Diko - en:abnormal irregular myofibrillar network

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Le Diko - en:abnormal irregular myofibrillar network

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le dictionnaire d'associations lexicales
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en:abnormal irregular myofibrillar network

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:nemaline myopathy 4

•

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

•

en:wide variation in fiber size

•

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

•

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

•

•

en:histochemically normal type-ii muscle fibers

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:localized cellulitis

•

en:minicores or core-like regions may be present

•

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

•

en:normal lamp2 staining (309060)

•

en:no facial muscle involvement

•

en:painful adipose tissue

•

en:upper limb involvement occurs later or not at all

•

en:muscle biopsy shows small rounded fibers

•

en:skeletal muscle weakness

•

en:normal respiratory chain studies seen on muscle biopsy

•

en:nemaline bodies are rarely intranuclear

•

en:muscle weakness (in some patients)

•

en:cores with lack of oxidative activity and mitochondrial depletion may also be found and extend along length of fiber

•

en:muscle wasting (especially legs and arms)

•

en:marked muscular hypertrophy

•

en:intracellular granular osmiophilic deposits

•

en:increased intramuscular fat

•

en:decreased numbers of achr seen on muscle biopsy

•

en:decreased mitochondria

•

en:muscle wasting, progressive

•

•

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

•

en:muscle weakness due to peripheral neuropathy

•

en:difficulty raising arms

•

en:exercise-induced myalgia

•

en:reduced ankle dorsiflexion

•

en:muscle weakness and atrophy, proximal

•

en:normal or increased facial adipose tissue

•

en:poor muscle build

•

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

•

en:redundancy of basal lamina with accumulated debris

•

en:small rounded fibers

•

en:calf hypertrophy (less common)

•

en:decreased coenzyme q10 content

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

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

•

en:biceps aplasia

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:decreased coenzyme q10

•

en:fibrillations in affected muscles

•

en:group fiber atrophy (in some patients)

•

en:increased fibrosis (in some patients)

•

en:muscle weakness, mild, proximal and distal

•

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

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:tubular aggregates seen on muscle biopsy

•

en:positive staining for slow myosin heavy chain

•

en:acetazolamide may worsen symptoms

•

en:decreased muscle mass (especially in lower limbs)

•

en:decreased muscle mass (in some patients)

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:facial edema

•

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

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:proximal muscle weakness, mild

•

en:type 1 muscle fiber predominance

•

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

•

en:muscle biopsy shows myofibrillar disruption

•

en:myopathic and neurogenic changes seen on emg

•

en:proximal muscle weakness in lower limbs

•

en:subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions

•

en:skeletal muscle damage

•

en:stiffness (uncommon)

•

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

•

en:emg shows myopathic features

•

en:increased connective tissue

•

en:leg cramps may occur with exercise

•

en:lipodystrophy (in some patients)

•

en:no staining for periodic acid schiff (pas)

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:amyotrophy, neurogenic

•

en:structurally abnormal mitochondria

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:hypotonia, mild

•

en:hypotonia (families a and b)

•

en:lower limbs more often affected

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:no staining for oxidative enzymes

•

en:distal muscle atrophy due to neurologic disease

•

en:difficulty running

•

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

•

en:primary myopathic changes seen on emg

•

•

en:tremor of the upper limb

•

en:velopharyngeal muscle weakness

•

en:generalized hypotonia

•

en:hip flexor weakness

•

en:muscle weakness, mainly proximal

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:muscle weakness after cooling or on warming affected muscle

•

en:hypoplasia of the hand muscles (29%)

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:muscle biopsy shows grouped atrophy

•

en:inability to stand on tiptoes

•

en:abnormal size and shape of synaptic endplates

•

en:nemaline bodies

•

•

en:mild endplate myopathy

•

en:minipolymyoclonus

•

en:mitochondria dna deletion

•

en:muscle biopsy may show inflammatory changes

•

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

•

en:muscle pain and cramping on exertion

•

en:muscle wasting, severe, primarily in the legs

•

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

•

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

•

en:peroneal muscle weakness

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:quadriceps weakness

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

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

•

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

•

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

•

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

•

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

•

en:degenerating fibers

•

en:decremental muscle response to repetitive nerve stimulation

•

en:sarcoplasmic or subsarcolemmal vacuoles in muscle fibers seen on muscle biopsy

•

en:loss of ambulation between third and sixth decade

•

en:muscle biopsy shows loss of type 2a fibers

•

en:non-pitting edema

•

en:myopathic pattern on emg

•

en:muscle biopsy shows myofibrillar myopathy

•

en:absence of myotonia in infancy (congenital form)

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:generalized neonatal hypotonia

•

en:buffalo hump (rare)

•

en:absence of immunostaining for alpha- and beta-dystroglycan (family b)

•

en:paralysis of the lower limbs (later)

•

en:nonspecific myopathy seen on biopsy

•

en:proximal amyotrophy

•

en:progressive proximal muscle weakness

•

en:absence of muscle pseudohypertrophy

•

en:apoptotic nuclei

•

en:decreased coenzyme q10 levels in muscle

•

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

•

en:dystrophic features seen on muscle biopsy

•

en:lipomas or lipomatous masses (most cases)

•

en:muscle hematoma

•

en:myofibrillar disorganization

•

en:poor head control

•

en:tendon tears

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:muscle weakness (type i)

•

en:muscle weakness and atrophy

•

en:muscle weakness and atrophy, progressive

•

en:myositis (in some patients)

•

en:muscle weakness increases with age

•

en:myofibrillar disintegration

•

•

en:myopathic features seen on emg

•

en:muscle weakness, upper and lower limbs

•

en:muscle weakness (1 patient)

•

en:muscle fiber atrophy, profound (rare)

•

en:muscle weakness, severe, proximal and distal

•

en:muscle hypertrophy

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle fiber splitting

•

en:muscle fiber necrosis

•

en:necrotic fibers

•

en:muscle coenzyme q deficiency

•

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

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:muscle biopsy shows lipid droplets

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:postsynaptic abnormalities

•

en:neurogenic abnormalities seen on emg

•

en:secondary myopathic features

•

en:upper and/or lower limbs may be affected

•

en:unable to walk

•

en:type 2 muscle fiber predominance

•

en:tortuous lymphatic tracts

•

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

•

en:superior rectus atrophy

•

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

•

en:small round skeletal muscle fibers

•

en:small miniature endplate potentials (mepp)

•

en:skeletal muscle biopsy shows reducing bodies

•

en:severe muscular hypotonia

•

en:repetitive action potentials in response to single nerve stimulation

•

en:nonspecific myopathic changes seen on biopsy

•

en:reduced postsynaptic cleft area

•

en:reduced activity of mitochondrial respiratory chains (1 family)

•

en:quadriceps aplasia

•

en:proximal muscle weakness in upper limbs

•

en:progression to wheelchair in fourth decade

•

en:presynaptic defect at the neuromuscular junction

•

en:preserved junctional structure seen on muscle biopsy

•

en:muscles do not contract upon electrical stimulation

•

en:poor head control in infancy

•

en:plantar fibromatosis

•

en:pectoralis hypoplasia

•

en:muscle atrophy, diffuse, severe

•

en:large hypertrophied fibers

•

en:mri may show cervical spinal cord atrophy

•

en:broad-based gait

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:decreased muscle succinate dehydrogenase

•

en:decreased muscle mass in the thighs

•

en:decreased activity of respiratory complex ii+iii

•

en:decreased acetylcholine receptors (achr) at endplate junctional folds (less common)

•

en:cox-negative fibers

•

en:cores or minicores

•

en:chronic weakness

•

en:centrally nucleated skeletal muscle fibers

•

en:calf muscle weakness

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:difficulty in toe walking

•

en:biceps brachii atrophy

•

en:attacks precipitated by potassium

•

en:attacks may present during or after sleep

•

en:atrophy of type 1 and type 2 fibers

•

en:atrophy of shins

•

en:areflexia due to muscle weakness

•

en:angulated atrophic fibers

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:absence of telethonin protein

•

en:abnormal fat distribution

•

en:upper limb muscle weakness may be more severe than lower limb weakness

•

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

•

en:distal muscle atrophy (1 patient)

•

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

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:loss of subcutaneous fat, diffuse

•

en:loss of antigravity strength

•

en:limb-girdle myopathy

•

en:increased staining for myotilin, dystrophin, desmin

•

en:increased lipid droplets and abnormal mitochondria

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:inability to sit or hold head up

•

en:hypotrophy of the small hand muscles

•

en:hypotonia, generalized, severe

•

en:hypothenar muscle atrophy

•

en:hypertonicity (uncommon)

•

en:distal muscle atrophy due to neuropathy

•

en:hip abductor weakness and atrophy

•

en:gluteal hypoplasia

•

en:filamentous inclusions in muscle fibers

•

en:fiber size variation (in some patients)

•

en:fiber necrosis

•

en:fatty infiltration of affected muscles

•

en:fatty deposition

•

en:exercise-induced weakness

•

en:easy fatigability with exercise

•

en:distal myopathy (in 1 family)

•

en:distal muscle weakness due to neuropathy

•

en:upper limb involvement and distal muscle involvement may occur later in disease course (often by second decade)

•

en:distal limb muscle weakness (less common)

•

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

•

en:muscle cramps (also seen in some heterozygotes)

•

en:nonspecific myopathic changes seen on biopsy (in some patients)

•

en:myofibroma (in 1 patient)

•

en:myoclonic spasms

•

en:muscular dystrophy with variable age of onset (infancy to young adult)

•

en:muscle weakness restricted to the upper limb

•

en:muscle weakness in forearm muscles

•

en:muscle weakness following prolonged exercise

•

en:muscle weakness begins proximally

•

en:muscle weakness and atrophy, distal

•

en:muscle weakness, limb-girdle, mild

•

en:muscle cramp

•

en:painful muscle cramps

•

en:muscle biopsy shows loss of myofibrillar organization

•

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

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle atrophy (in some patients)

•

en:muscles have a woody consistency on palpation

•

en:muscles become hard and tender during exercise

•

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

•

en:mitochondria show paracrystalline inclusions

•

en:mildly increased mtdna

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:lymphangiectasia

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:internal nuclei seen on muscle biopsy

•

en:tibialis anterior muscle affected

•

en:z-disks with abnormal homogeneous material

•

en:vacuole membranes show atpase reactivity consistent with origin from the sarcoplasmic reticulum

•

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

•

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

•

en:virtually no active movement at birth (wws)

•

en:variation of myofiber diameter

•

en:vacuolar degeneration

•

en:usually no myopathic changes on biopsy

•

en:type 1 fiber predominance

•

en:truncal hypotonia (family a)

•

en:thickening of fascia of forearm

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:signs of denervation seen on biopsy

•

en:repetitive response to single nerve stimulus

•

en:relative sparing of the tibialis anterior

•

en:recovery between attacks

•

en:proximal muscle weakness more severe than distal muscle weakness

•

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

•

en:prominent musculature

•

en:progressive distal and proximal symmetric limb weakness

•

en:primarily affects lower limbs

•

en:preserved nerve terminals seen on muscle biopsy

•

en:postexercise cmap amplitude facilitation

•

en:limb muscle weakness, proximal, upper and lower

•

en:neonatal edema (in some patients)

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:congophilic amyloid material

•

en:distal muscle weakness, occurs initially

•

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

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:decreased muscle density on imaging

•

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

•

en:decreased activity of mitochondrial complexes i and iv

•

en:decreased activity of complex i and complex iv

•

en:cores of myofibrillar disruption with associated absence of mitochondria

•

en:congophilic staining

•

en:congophilic eosinophilic inclusions

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

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

•

en:calf muscle discomfort

•

en:calcific tendinitis

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

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

•

en:attacks usually decrease or disappear after age 40 years

•

en:atrophy of type i fibers

•

en:atrophy of neck muscles may occur later

•

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

•

en:widening of the synaptic cleft

•

en:increased numbers of type 1 fibers

•

en:waddling gait

•

en:distal muscle weakness due to peripheral neuropathy

•

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

•

en:disuse atrophy

•

en:hamstring and quadriceps muscles mildly affected

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:inclusion body myopathy

•

en:increased lysosomal glycogen

•

en:inability to run

•

en:hypotonia (patient b)

•

en:hypotonia, generalized (in some patients)

•

en:hypotonia, axial, severe

•

en:hypoplasia of cervical paravertebral muscles

•

en:hypertonicity of the lower limbs

•

en:hypertonia late

•

en:hemihypertrophy of right arm and leg (rare)

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:glycogen depletion in skeletal muscle

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:generalized weakness (adult-onset)

•

en:emg shows myopathic or neurogenic changes

•

en:emg shows neurogenic changes

•

en:edema of lower extremity

•

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

•

en:exertional leg pain

•

en:facial muscle atrophy

•

en:generalized muscle weakness

•

en:generalized muscular appearance from birth

•

en:progressive muscle weakness

•

en:necrosis and degeneration seen on muscle biopsy

•

en:preserved heel standing

•

en:poor exercise tolerance

•

en:phagocytic vacuoles with degraded membranous material

•

en:pain or cramping during sustained manual activity

•

en:no muscle fiber necrosis

•

en:normal sensation

•

en:normal or increased adipose tissue around the neck

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:muscle biopsy shows neurogenic atrophy

•

en:muscle weakness is not a feature

•

en:neck and proximal limb muscle myopathy

•

en:myopathy, nonprogressive

•

en:myopathic changes seen on emg and muscle biopsy

•

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

•

en:muscular dystrophy (in some patients)

•

en:muscle weakness, hypokalemia-related

•

en:muscle shows lipid accumulation

•

en:muscle paralysis, episodic

•

en:muscle pain (less common)

•

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

•

en:muscle biopsy shows no dystrophic changes

•

en:prominent muscular appearance

•

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

•

en:rectus medial atrophy

•

en:'hanging' big toe

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:calf muscle pseudohypertrophy

•

en:calf hypertrophy (reported in 1 family)

•

en:calf atrophy (later onset)

•

en:buffalo hump

•

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

•

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

•

en:absence of laminin alpha-2 chain in muscle

•

en:abnormal sarcoplasmic reticulum elements

•

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

•

en:abnormalities in myofibril organization

•

en:weak extraocular muscles

•

en:reduced subcutaneous fatty tissue

•

en:variation of fiber size and shape

•

en:uterine muscle may be stiff during pregnancy

•

en:tetanus-like muscle contractions

•

en:subsarcolemmal mitochondrial accumulation

•

en:sparing of anterior tibialis muscle

•

en:some abnormal aggregation of mitochondria

•

en:smooth muscle may also become involved

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:shoulder muscle weakness (in some patients)

•

en:scattered necrotic fibers

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

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

•

en:abnormal iron deposition in mitochondria

•

en:muscle atrophy restricted to the upper limb

•

en:congenital muscular dystrophy (disorder)

•

en:difficulty walking

•

en:diastasis recti

•

en:degenerating junctional folds

•

en:deficiency of mitochondrial complexes i, iii, and iv

•

en:decremental response to repetitive nerve stimulation

•

en:decremental compound muscle action potential on repetitive stimulation

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:decreased postsynaptic achr

•

en:decreased muscle mass

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:changes in sarcoplasmic reticulum and t-tubules

•

en:distal muscle atrophy, affecting the lower limbs

•

en:central nuclei

•

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

•

en:biopsy shows dystrophic changes

•

en:bilateral foot drop

•

en:asymmetric muscle involvement

•

en:aggregates contain granular electron-dense material

•

en:adiposis on mri

•

en:abnormal muscle tone

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:abnormal mitochondrial morphology

•

en:congenital, nonprogressive myopathy

•

en:distal amyotrophy

•

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

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:hematomas, recurrent large subcutaneous

•

en:mild muscular hypotonia

•

en:lymphography shows increased number of dilated lymphatic vessels (hyperplasia)

•

en:lower limb atrophy

•

en:limb weakness, proximal followed by distal

•

en:limb-girdle muscle weakness

•

en:involves upper and lower proximal muscles

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:increased centralized nuclei

•

en:hypotonia (untreated hypothyroidism)

•

en:hypotonia, mild (1 patient)

•

en:hypoplasia of supraspinatus muscle

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:dystrophic skeletal muscle seen on biopsy

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:fat pads on the hands and feet

•

en:fasciculations (in some patients)

•

en:facial paresis

•

en:eosinophilic inclusions

•

en:endplate myopathy

•

en:emg shows myopathic and neurogenic changes

•

en:emg shows high-frequency spontaneous discharges

•

en:emg - repetitive muscle discharges

•

en:edema (hands and feet)

•

en:easy bruisability of lower extremities

•

en:calf pseudohypertrophy rare

•

en:proximal muscle weakness, less severe

•

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

•

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

•

en:protein aggregates immunopositive for actin and desmin

•

en:prolonged endplate potentials

•

en:prolonged achr channel opening episodes

•

en:pelvic girdle weakness

•

en:pelvic girdle muscle atrophy

•

en:no lipodystrophy in face and neck

•

en:normal or increased truncal adipose tissue

•

en:nonspecific myopathy

•

en:neurogenic atrophy

•

en:necrotic changes (finding)

•

•

en:proximal muscle weakness, limb-girdle distribution

•

en:myopathic changes early in disease seen on emg

•

en:myofibrillar myopathy

•

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

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:muscular atrophy

•

en:muscle weakness usually does not occur

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:muscle mounding

•

en:muscle hypertrophy may occur

•

en:muscle biopsy shows variation in fiber size

•

en:proximal muscle weakness

•

en:proximal muscle weakness, lower limbs, slowly progressive (1 of 3 patients)

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:transient neonatal hypotonia (less common)

•

en:cytochrome c oxidase-negative fibers

•

en:z-disk streaming

•

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

•

en:weakness of neck extensors (rare)

•

en:weakness and wasting of the lower limbs

•

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

•

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

•

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 2 muscle fiber atrophy

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

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

•

en:proximal muscle weakness (85% of patients)

•

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

•

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

•

en:slim, muscular build (in some patients)

•

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

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:shortened open channel duration

•

en:secondary myopathic changes

•

en:sarcomere disappearance seen on muscle biopsy

•

en:rigidity (uncommon)

•

en:retroperitoneal fibrosis (rare)

•

en:ragged-red fibers on muscle biopsy

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:triceps aplasia

•

en:muscle biopsy shows inflammation with t cells

•

en:difficulty climbing stairs, jumping, running

•

en:enlarged mitochondria

•

en:emg shows myopathic changes

•

en:edematous hands and feet (1 patient)

•

en:dystrophic changes seen on muscle biopsy

•

en:distal muscle weakness, affecting the lower limbs

•

en:distal muscle atrophy due to peripheral neuropathy

•

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

•

en:distal muscle atrophy, lower legs

•

en:disruption in the basal lamina seen on skeletal muscle biopsy

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:deltoid muscle hypoplasia

•

en:fiber size variation seen on biopsy (in some patients)

•

en:delayed motor development (cvs+)

•

en:degenerative features seen on muscle biopsy

•

en:degenerating mitochondria

•

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

•

en:decreased thiamine pyrophosphate

•

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

•

en:decreased expression of the vdac1 protein

•

en:decreased atp production

•

en:decreased activity of respiratory complex i+iii

•

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

•

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

•

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

•

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

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:internal nuclei (in some patients)

•

en:muscle atrophy (variable)

•

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

•

en:gowers sign (in some patients)

•

en:minicore-like lesions with mitochondrial depletion and sarcomeric disorganization

•

en:mild atrophy of the proximal lower limbs

•

en:lower and upper limbs affected

•

en:loss of truncal subcutaneous adipose tissue

•

en:loss of subcutaneous adipose tissue from upper limbs and trunk

•

en:loss of achr

•

en:lipid droplet accumulation

•

en:limb-girdle muscular dystrophy

•

en:low maximum workload on exercise testing

•

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

•

en:hypotonia at birth

•

en:grip strength decreased

•

en:hypoplasia of latissimus dorsi muscle

•

en:handgrip myotonia

•

en:hypotonia (patients a and c)

•

en:hyporeflexia or areflexia

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

en:impaired toe-walking

•

en:increased centralized internal nuclei

•

en:increased internal nuclei (in some patients)

•

en:increased perisarcolemmal calcium deposition

•

en:muscle biopsy shows degeneration of muscle fibers, variation in fiber size, fiber splitting, rimmed vacuoles, and central myonuclei

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:muscle biopsy shows atrophic fibers

•

en:muscle atrophy (1 patient)

•

en:multiple mitochondrial dna deletions

•

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

•

en:mtdna depletion seen on muscle biopsy

•

en:mri shows fatty replacement

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:mitochondrial paracrystalline inclusion bodies

•

en:mitochondrial dna deletion (1 patient)

•

en:mild muscle atrophy in forearm muscles

•

en:increased variation in fiber size seen on muscle biopsy

•

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

•

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

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

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

•

en:muscle biopsy shows fiber type disproportion

•

en:lack of integrin alpha-7 staining

•

en:muscle biopsy shows dystrophic changes

•

en:nemaline rod formation

•

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

•

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

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:repetitive response to single nerve stimulation

•

en:reduced muscle bulk

•

en:premature exertional muscle weakness

•

en:positive staining for atpase activity at ph of 4.3

•

en:pena-shokeir syndrome type i

•

en:normal phosphorylase kinase activity in muscle

•

en:neonatal hypertonias

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

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

•

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

•

en:myopathy seen on emg

•

en:muscle weakness, proximal greater than distal

•

en:muscle weakness, lower limbs (patient a)

•

en:muscle hypertrophy of the lower extremities

•

en:muscle cramps during exercise

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

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

•

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

•

en:increased falls

•

en:cytochrome-c oxidase deficiency

•

en:deglutition disorders

•

en:decreased muscle bulk (in one patient)

•

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

•

en:decreased immunostaining for succinate dehydrogenase (mitochondrial complex ii)

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:decreased caveolae in muscle tissue

•

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

•

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

•

en:cranial muscles spared

•

en:dystrophic changes on biopsy

•

en:atrophy of upper girdle muscles

•

en:atrophy, mild (in some cases)

•

en:absence of caveolin-3 staining

•

en:abnormal jitter seen on emg

•

en:abnormal fiber size variation

•

en:abnormal fatigue

•

en:abdominal wall muscle weakness (later onset)

•

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

•

en:distal muscle weakness, lower legs

•

en:edema, subcutaneous, generalized

•

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

•

en:fragmented mitochondrial network

•

en:inclusions are tdp43-immunoreactive

•

en:hypotonia (in some patients)

•

en:hypotonia, severe, persistent

•

en:hypotonia, infantile, severe

•

en:hyporeflexia

•

en:head drop due to neck muscle weakness

•

en:granular deposits in the sarcomeres

•

en:frontalis muscle weakness

•

en:foot dorsiflexor weakness

•

en:electromyography shows myotonic discharges

•

en:focal loss of cross- striations

•

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

•

en:fibrillation

•

en:fiber type variation

•

en:facial muscle atrophy of involved side

•

en:emg shows myopathic pattern

•

en:emg may showed myotonic discharges

•

en:emg consistent with chronic neurogenic disorder

•

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

•

en:distal lower limb amyotrophy

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:muscle hypotonia

•

en:myopathy with abnormal lipid metabolism

•

en:myopathy (in some patients)

•

en:myopathic changes seen on emg of affected muscle

•

en:myopathic changes seen muscle biopsy

•

en:muscle weakness may affect upper limbs

•

en:muscle weakness is predominantly of extremities and tongue

•

en:muscle weakness, distal, restricted to the lower limbs

•

en:muscle pain (in some patients)

•

en:muscle fiber splitting (in some patients)

•

en:nemaline rods may be observed

•

en:muscle biopsy shows atrophy

•

en:muscle atrophy, limb-girdle and proximal

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:mitochondrial dna depletion, severe

•

en:minicores extend full fiber diameter

•

en:loss of subcutaneous fat, generalized

•

en:loss of ambulation

•

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

•

en:myotonic discharges

•

en:normal or increased abdominal adipose tissue

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:small type ii fibers

•

en:thenar amyotrophy (rare)

•

en:upper limb involvement may occur later

•

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

•

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

•

en:subcutaneous lipomatous tissue

•

•

en:sparing of small hand and finger muscles

•

en:some patients become wheelchair-dependent

•

en:small atrophic muscle fibers

•

en:no muscle weakness

•

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

•

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

•

en:reduced subcutaneous adipose tissue

•

en:red-ragged fibers (2p21del)

•

en:proximal myopathy

•

en:progressive proximal muscle involvement

•

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

•

en:poor sarcomeric structure (in some patients)

•

en:pelvic muscle involvement occurs later

•

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

•

en:weakness worsened by activity

•

en:increased variability in muscle fiber diameter

•

en:ankle clonus

•

en:decreased endplate potential and amplitudes

•

en:decreased density of calcium release units

•

en:decreased complex i activity (rare)

•

en:decreased adipose tissue around neck

•

en:decreased activity of mitochondrial complex i

•

en:centrally located nuclei seen on muscle biopsy

•

en:calf hypertrophy (in some patients)

•

en:atrophy, neurogenic muscular

•

en:angulated atrophic muscle fibers

•

en:decreased numbers of acetylcholine receptors (achr) in the postsynaptic membrane (less than 50% of normal)

•

en:affected muscles show atrophy

•

en:absence of immunostaining for alpha-dystroglycan (family a)

•

en:abnormal mitochondria with loss of cristae

•

en:abnormal mitochondrial proliferation

•

en:abnormal axons with sprouting and swelling

•

en:muscle soft, tissue

•

en:weakness of ankle plantar flexion

•

en:usually a unilateral disorder

•

en:decreased muscle mass (predominantly in lower extremities)

•

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

•

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

•

en:flaccid neck

•

en:increased muscle glycogen content

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:increased connective tissue and fat in muscles

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:hypotonia, severe (patient b)

•

en:hyaline plaques with absent oxidative activity

•

en:humeroperoneal weakness and atrophy

•

en:gastrocnemius and soleus muscles most affected

•

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

•

en:increased subcutaneous truncal adipose tissue

•

en:fiber size variation

•

en:dystrophic features

•

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

•

en:distal muscle weakness, predominantly lower limbs

•

•

en:degrading mitochondria

•

en:easily fatigued (finding)

•

en:emg shows chronic denervation

•

en:emg shows increased insertion activity and fibrillation

•

en:neurogenic changes seen on emg

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:necrotic and regenerating muscle fibers

•

en:myopathy (rare)

•

en:myasthenic syndrome (hcs)

•

en:muscular stiffness

•

en:muscle weakness, proximal more than distal

•

en:muscle weakness, distal more than proximal

•

en:muscle stiffness (in older patients)

•

en:muscle weakness

•

en:muscle pain following exercise (in some patients)

•

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

•

en:peripheral edema

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle biopsy shows centralized nuclei

•

en:muscle atrophy, primarily in the legs

•

en:muscle aches, cramps

•

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

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:proximal muscle weakness (in some patients)

•

en:some patients never achieve ambulation

•

en:minimal muscle mass

•

en:tubular aggregates seen on biopsy

•

en:tubular aggregates in muscle fibers may occur

•

en:toe-walking gait

•

en:thin musculature

•

en:thenar muscle atrophy

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:skeletal muscle may show less severe mtdna deletion

•

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

•

en:severe muscle hypotonia at birth

•

en:severe disability within 20 years of onset

•

en:secondarily decreased activities of mitochondrial respiratory enzymes (in some patients)

•

en:scapular muscle weakness

•

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

•

en:replacement of affected muscle tissue with fatty tissue

•

en:reduced muscle tone but normal power

•

en:ragged-red fibers seen on muscle biopsy

•

en:mitochondrial myopathies

•

en:exercise intolerance (less common)

•

en:mild weakness of the small hand muscles

•

en:decreased exercise tolerance

•

en:disorganization of the myofibrillar pattern

•

en:deposits immunoreactive to beta-amyloid protein

•

en:denuded postsynaptic regions

•

en:denervation seen on emg

•

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

•

en:decremental cmap response to repetitive nerve stimulation

•

en:decreased numbers of achr

•

en:decreased levels and activity of mitochondrial respiratory complexes i and iv

•

en:decreased activity of mitochondrial complex iii

•

en:distal weakness, upper and lower limbs (variable)

•

en:chronic fatigable muscles

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:axial muscle weakness

•

en:atrophy of the small muscles in the hands and feet

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:anterior tibial muscles first involved

•

en:'sloping' shoulders due to muscle atrophy

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:distal muscle weakness and atrophy

•

en:dorsal and flexor muscles of the forearm are involved

•

en:merosin-positive biopsy

•

en:increased length of endplate regions seen on muscle biopsy

•

en:lymphedema of the hands (in some patients)

•

en:lymphedema (primarily in lower limbs, but also arms in some patients)

•

en:loss of gluteal adipose tissue

•

en:loss of ability to walk in early childhood

•

en:lipodystrophy

•

en:limb lymphedema (in some patients)

•

en:lack of antigravity movements (patient b)

•

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

•

en:increased fiber size variability

•

en:dystrophic changes

•

en:increased fatty infiltration

•

en:increased fatigue

•

en:hypotonia from birth to age 12

•

en:hypotonia (cvs+)

•

en:hypotonia, truncal and appendicular

•

en:hyperactive deep tendon reflexes

•

en:hand and foot weakness

•

en:giant granules in muscle cells

•

en:generalized limb muscle atrophy

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

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

•

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

•

en:myopathic changes seen on emg

•

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

•

en:progression to proximal muscle weakness

•

en:predominantly lower limb lymphedema

•

en:nuclear clumps

•

en:no ragged-red fibers

•

en:neck flexor weakness

•

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

•

en:myopathy, mild to severe

•

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:muscle weakness (hcs)

•

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

•

en:muscle weakness, predominantly proximal

•

en:muscle weakness, episodic

•

en:muscle weakness, congenital

•

en:muscle hypertonia

•

en:muscle biopsy shows type 1 fiber predominance

•

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

•

en:proximal muscle atrophy (in some patients)

•

en:rectus fascia separation

•

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

•

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

•

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

•

en:variation in skeletal muscle fiber diameter

•

en:variability in fiber size

•

en:vacuoles are autophagocytic

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:upper limb weakness

•

en:type 1 fiber atrophy

•

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

•

en:symptoms are progressive for a few years, and then become stationary

•

en:reduced muscle mass

•

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

•

en:small nerve terminals

•

en:shoulder weakness

•

en:shoulder girdle weakness

•

en:secondary loss of merosin and desmin

•

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

•

en:scapuloperoneal amyotrophy

•

en:rhabdomyolysis may occur

•

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

•

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

•

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

•

en:deep finger muscle weakness

•

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

•

en:emg shows fasciculations

•

en:electromyogram abnormal

•

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

•

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

•

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

•

en:distal amyotrophy (hands and feet)

•

en:degeneration of junctional folds

•

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

•

en:fasciculations (less common)

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:cox-depleted fibers

•

en:contractures of upper limbs (in some patients)

•

en:calf muscle hypertrophy

•

en:calcium accumulation in junctional folds seen on muscle biopsy

•

en:atrophic muscle fibers

•

en:amyotrophy affects c5 to t1 myotomes

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:exercise intolerance (cvs+)

•

en:cervical muscle weakness

•

en:fatty infiltration

•

en:lipoatrophy, generalized

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:fiber-type variability

•

en:muscle atrophy, mild, more proximal than distal

•

en:muscle aches, intermittent

•

en:mri shows fatty infiltration of affected muscles

•

•

en:mitochondrial dna deletions (in some patients)

•

en:lipoatrophy of trunk

•

•

en:large lipid droplets

•

en:foot extensor muscle weakness (later onset)

•

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

•

en:increased number of small endplates

•

en:impaired heel-walking

•

en:fibrous dysplasia (rare)

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:generalized amyotrophy

•

en:frequent falls

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:inclusions are dnajb6-immunoreactive

•

en:increased endomysial fibrosis

•

en:increased glycogen

•

en:lower limb muscle atrophy

•

en:marked lack of adipose tissue

•

en:mild weakness

•

en:mildly decreased cytochrome c oxidase activity

•

en:mild muscle weakness

•

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

•

en:mitochondrial swelling

•

en:mitochondria are placed at the periphery of muscle fibers

•

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

•

en:heterotopic bone formation in subcutaneous fat

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:hypertonia at birth

•

en:distal muscular atrophy due to peripheral neuropathy

•

•

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

•

en:muscle fatigue

•

en:difficulty walking on heels occurs prior to difficulty walking on toes

•

en:disorganization of the neuromuscular junction

•

en:distal muscles may be affected

•

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

•

en:distal muscle weakness, lower limbs more severely affected than upper limbs

•

en:easy fatigue

•

en:gowers sign present

•

en:electron microscopy showed z-disk streaming

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:emg shows myopathy

•

en:exercise intolerance (patient a)

•

en:fiber type grouping

•

en:gait abnormality

•

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

•

en:soft fleshy palms (50%)

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:weakness of anterior compartment tibial muscles

•

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

•

en:tenderness of lower extremities

•

en:thickened endplate basal lamina seen on muscle biopsy

•

en:tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles

•

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

•

en:umbilical hernia

•

en:wrist swelling

•

en:rhabdomyolysis (in some patients)

•

•

•

•

en:increased glycogen in muscle

•

empâtement de la nuque et du cou

•

•

en:shoulder girdle muscle atrophy

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:muscle fiber regeneration

•

en:necrotic muscle fibers

•

en:muscle pain with exercise (in older patients)

•

en:muscle weakness, variable

•

en:myofibromatosis

•

en:myopathic features seen on biopsy

•

•

•

en:nonspecific myopathic changes

•

en:reduced muscle tone

•

en:normal mitochondrial morphology (1 patient)

•

en:panniculitis

•

en:patients achieve independent ambulation, but may lose it

•

en:paucity or absence of lymph nodes in the axillae and above the inguinal ligaments seen on scintilymphangiography

•

en:prolonged rise and decay of miniature endplate potentials (mepp)

•

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

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:decremental response to repetitive stimulation at neuromuscular junction

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7117795 • caches: c1=8 c2=1003 c3=1

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