Le Diko - en:decremental compound muscle action potential on repetitive stimulation

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Le Diko - en:decremental compound muscle action potential on repetitive stimulation

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le dictionnaire d'associations lexicales
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(id=9094207)

en:decremental compound muscle action potential on repetitive stimulation

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

source:wiki

Associations d'idées

1000

en:vacuolar membranes immunostain with sarcolemmal proteins

•

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

•

en:limb-girdle muscular dystrophy

•

en:increased connective tissue (in some patients)

•

en:distal limb muscular weakness due to peripheral neuropathy

•

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

•

en:decreased shank muscle mass

•

en:cox-deficient fibers

•

en:adiposis on mri

•

en:thenar eminence hypoplasia

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:impaired toe-walking

•

en:axial weakness

•

en:thenar muscle atrophy

•

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

•

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

•

en:broad-based gait

•

en:wrist swelling

•

en:muscle atrophy, progressive

•

en:gastrocnemius and soleus muscles most affected

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:emg shows polyphasic continuous motor unit discharges

•

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

•

en:decreased activity of complexes ii+iii

•

en:weakness and wasting of the lower limbs

•

en:muscle stiffness or aching

•

en:levator palpebrae superioris atrophy

•

en:increased falls

•

en:facial paresis

•

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

•

•

en:loss of achr

•

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

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:increased connective tissue and fat in muscles

•

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

•

en:distal muscle atrophy due to neurologic disease

•

en:degenerating nerve terminals

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:attacks usually decrease or disappear after age 40 years

•

en:angulated atrophic muscle fibers

•

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

•

en:prominent muscular appearance

•

en:normal or decreased facial and neck adipose tissue

•

en:nonspecific muscle fiber atrophy

•

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

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:increased glycogen

•

en:foot extensor muscle weakness (later onset)

•

en:distal muscle atrophy due to neuropathy

•

en:distal limb muscle atrophy, lower more than upper

•

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

•

en:stiffness (uncommon)

•

en:preserved junctional folds

•

en:myopathic findings on biopsy have been occasionally reported

•

en:muscle weakness in forearm muscles

•

en:low muscle mass

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

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

•

en:rounded, atrophic fibers (family a)

•

en:proximal muscle involvement may occur

•

en:muscle biopsy shows merosin (156225)-positive muscle fibers

•

en:muscle atrophy, severe

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

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

•

en:small atrophic muscle fibers

•

en:muscle aches, cramps

•

en:increased centralized nuclei

•

en:foot dorsiflexor weakness

•

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

•

en:biopsy shows myopathic and dystrophic changes

•

en:absence of collagen vi immunostaining

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

en:scapular muscle weakness

•

en:numerous vacuole-like areas

•

en:normal lamp2 staining (309060)

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:distal muscle weakness

•

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

•

en:relatively preserved limb strength

•

en:reduced muscle tone but normal power

•

en:potassium sensitivity has been reported

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:lower and upper limbs affected

•

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

•

en:fiber type variation seen on biopsy

•

en:calf hypertrophy (reported in 1 family)

•

en:symptoms may be induced by heat

•

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

•

en:myasthenic syndrome (hcs)

•

en:mtdna depletion seen on muscle biopsy

•

en:fat pads on the hands and feet

•

en:easily fatigued (finding)

•

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

•

en:skeletal muscle damage

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:limb-girdle muscle weakness (2 families)

•

en:distal lower limb muscle weakness

•

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

•

•

en:abnormal fiber size variation

•

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:muscle weakness, proximal, limb-girdle

•

en:muscle weakness and atrophy, proximal

•

en:mitochondrial proliferation

•

en:mitochondria show paracrystalline inclusions

•

en:large hypertrophied fibers

•

en:delayed motor development (cvs+)

•

en:decreased muscle mass

•

en:cytoplasmic inclusion bodies (finding)

•

en:cytochrome c oxidase-negative fibers

•

en:centralized nuclei, rare

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:soft tissue vascular malformations

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

en:easy fatigability

•

en:abnormal subcutaneous fat tissue distribution

•

en:z-disk streaming

•

en:winged scapula

•

en:weakness worsened by activity

•

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

•

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

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:sparing of anterior tibialis muscle

•

en:some abnormal aggregation of mitochondria

•

en:smooth muscle may also become involved

•

en:small rounded fibers

•

en:shoulder muscle weakness

•

en:severely decreased or absent lamp2 protein

•

en:scattered necrotic fibers

•

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

•

en:rimmed vacuoles

•

en:replacement of affected muscle tissue with fatty tissue

•

en:repetitive action potentials in response to single nerve stimulation

•

en:relative sparing of the tibialis anterior

•

en:reduced muscle strength (in some patients)

•

en:reduced muscle bulk

•

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

•

en:postsynaptic abnormalities

•

en:phagocytic vacuoles with degraded membranous material

•

en:peripheral edema

•

en:normal or increased adipose tissue around the neck

•

en:nonspecific myopathic changes seen on biopsy

•

en:neurogenic abnormalities seen on emg

•

en:nemaline rods may be observed

•

en:myotonic discharges

•

en:myopathic features seen on emg

•

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

•

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

•

en:muscle weakness, predominantly proximal

•

en:muscle weakness, hypokalemia-related

•

en:muscle weakness, distal (in some patients)

•

en:muscle weakness usually does not occur

•

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

•

en:muscle wasting in lower limbs

•

en:muscle pain with exercise (in older patients)

•

en:muscle pain and cramps following exercise

•

en:muscle hypotonia

•

en:muscle cramps at rest

•

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

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

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

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:muscle atrophy, mild, more proximal than distal

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:muscle amyotrophy

•

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 complex iii deficiency (disorder)

•

en:mild weakness

•

en:macroglossia

•

en:lymphedema of lower limbs (in some patients)

•

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

•

en:lower limb muscle atrophy

•

en:loss of subcutaneous fat

•

en:loss of subcutaneous fat, generalized

•

en:limb weakness and atrophy

•

en:leg cramps may occur with exercise

•

en:interosseus muscles involved

•

en:internal nuclei (in some patients)

•

en:inability to jump or squat

•

en:hypotonia, severe, persistent

•

en:hypotonia (cvs+)

•

en:hyporeflexia or areflexia

•

en:hypoplasia of supraspinatus muscle

•

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

•

en:head drop due to neck muscle weakness

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

en:giant granules in muscle cells

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:forearm muscle weakness

•

en:fiber size variation seen on muscle biopsy

•

en:facial edema

•

en:exercise-induced myalgia

•

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

•

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

•

en:eosinophilic inclusions

•

en:emg shows neurogenic changes

•

en:emg shows denervation

•

en:emg consistent with chronic neurogenic disorder

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

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

•

en:distal muscle weakness may occur

•

en:distal muscle atrophy, affecting the lower limbs

•

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

•

en:distal muscle atrophy (1 patient)

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

en:deep finger muscle weakness

•

en:decremental response to repetitive nerve stimulation

•

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

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:decreased activities of complexes i and iv

•

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

•

en:calf hypertrophy (less common)

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:amyotrophy, distal, upper and lower limbs

•

en:aggregates contain granular electron-dense material

•

en:abnormal jitter

•

en:vacuoles are autophagocytic

•

en:upper limb weakness

•

en:umbilical cord bleeding

•

en:tendon tears

•

en:superficial rerouting of lymph through the skin

•

en:skeletal muscle weakness

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:shortening of various muscle-tendon groups in feet

•

en:short and thickened z-discs

•

en:sarcoplasmic inclusions

•

en:rhabdomyolysis, episodic

•

en:reduced muscle mass

•

en:quadriceps atrophy (later onset)

•

en:proximal muscle weakness, limb-girdle distribution

•

en:protein aggregates immunopositive for actin and desmin

•

en:prominent musculature

•

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

•

en:poor muscle mass

•

en:peroneal muscle weakness

•

en:pectoralis major hypoplasia

•

en:normal or increased truncal adipose tissue

•

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

•

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

•

en:neurogenic changes seen on emg and biopsy

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:myotonia is present in majority of cases

•

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

•

•

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

•

en:muscle weakness, mild, proximal and distal

•

en:muscle weakness, mainly proximal and axial

•

en:muscle weakness, episodic

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle weakness (type i)

•

en:muscle weakness (cvs+)

•

en:muscle weakness (1 patient)

•

en:muscle paralysis, episodic

•

en:muscle mri shows fatty infiltration

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:muscle biopsy shows ragged red fibers

•

en:muscle biopsy shows lipid droplets

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

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

•

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

•

en:muscle biopsy may show inflammatory changes

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:muscle atrophy (1 patient)

•

en:mri shows fatty infiltration of affected muscles

•

en:mitochondrial dna deletions (in some patients)

•

en:mitochondria dna deletion

•

en:minimal subcutaneous fat

•

en:minicores (in some)

•

en:lymphangiectasia

•

en:lower limb muscle hypotrophy

•

en:loss of truncal subcutaneous adipose tissue

•

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

•

•

en:lipoatrophy of trunk

•

en:limb muscular atrophy

•

en:large lipid droplets

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:inflammatory cells absent

•

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

•

en:increased perisarcolemmal calcium deposition

•

en:increased muscle glycogen content

•

en:increased lipid droplets and abnormal mitochondria

•

en:increased internal nuclei in skeletal muscle fibers

•

en:increased fibrosis (family a)

•

en:inability to stand on tiptoes

•

en:hypotonia at birth

•

en:hypoplasia of latissimus dorsi muscle

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:hip flexor weakness

•

en:generalized amyotrophy

•

en:floppy infant syndrome

•

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

•

en:fiber necrosis

•

en:episodic weakness may or may not occur independent of myotonia

•

en:emg shows myopathy

•

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

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

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

•

en:distal muscle atrophy due to peripheral neuropathy

•

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

•

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

•

en:distal lower limb muscle weakness and atrophy

•

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

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:disruption of sarcomeres with disorganization of the z band

•

en:disorganized myofilaments seen on muscle biopsy

•

en:difficulty walking and climbing stairs (patient a)

•

en:difficulty rising from a squatting position

•

en:depletion of mitochondrial dna

•

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

•

en:decreased postsynaptic length

•

en:decreased muscle mass (especially of limbs)

•

en:decreased mitochondrial complex v activity

•

en:decreased glycosylation of alpha-dystroglycan

•

en:decreased coenzyme q10 content

•

en:decreased activity of respiratory complex i+iii

•

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

•

en:centralized nuclei may be seen

•

en:calf muscle discomfort

•

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

•

en:biceps aplasia

•

en:atrophy of the thenar and hypothenar muscles

•

en:atrophic fibers

•

en:ascites (in some patients)

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:abnormally long mitochondria seen on muscle biopsy

•

en:abnormal z bands

•

en:z-line streaming see on electron microscopy

•

en:usually a unilateral disorder

•

en:upper limb involvement occurs later or not at all

•

en:thigh hypertrophy

•

en:tetanus-like muscle contractions

•

en:swelling of the hands and feet, episodic

•

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

•

en:structurally abnormal mitochondria

•

en:small endplate

•

en:slow motor responses to sudden events (i.e., falling)

•

en:skeletal muscle shows dystrophic changes

•

en:shoulder weakness

•

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

•

en:repetitive response to single nerve stimulation

•

en:rectus abdominis muscle separation

•

en:quadriceps atrophy

•

en:pseudohypertrophy of muscle

•

en:proximal muscle weakness

•

en:progressive muscle weakness

•

en:progressive interictal weakness is common

•

en:preserved junctional structure seen on muscle biopsy

•

en:poor head control

•

en:pain or cramping during sustained manual activity

•

en:non-pitting edema

•

en:neurogenic changes seen on emg

•

en:myositis (in some patients)

•

en:myopathy (rare)

•

en:myopathic pattern seen on emg

•

en:myopathic pattern on emg

•

en:myopathic changes early in disease seen on emg

•

en:muscles have a woody consistency on palpation

•

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

•

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

•

en:muscle weakness restricted to the upper limb

•

en:muscle fibers contain internal nuclei

•

en:muscle fibers appear as fetal myotubules

•

en:muscle cramps (also seen in some heterozygotes)

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

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

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:muscle biopsy shows atrophy

•

en:muscle atrophy (in some patients)

•

en:muscle aches, intermittent

•

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

•

en:mri shows fatty replacement

•

en:minipolymyoclonus

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:lymphedema, hands (rare)

•

en:lymphedema of the hands (in some patients)

•

en:loss of lower-limb tendon reflexes

•

en:loss of ambulation between third and sixth decade

•

en:lipid storage, mainly in type i fibers

•

en:lack of antigravity movements (patient b)

•

en:increased muscle lipid content

•

en:increased mitochondria seen on muscle biopsy

•

en:increased adipose fibrosis

•

en:immunoreactivity for z-disk proteins

•

en:hypotonia, generalized, severe

•

en:hypoglycosylation of alpha-dystroglycan

•

en:granular deposits in the sarcomeres

•

en:generalized amyoplasia

•

en:emg shows myopathic features

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

•

en:distal muscle weakness, predominantly lower limbs

•

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 leg muscle atrophy

•

en:distal amyotrophy

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

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

•

en:decreased mitochondria

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:decreased distal reflexes

•

en:decreased collagen vi

•

en:decreased activity of respiratory complex ii+iii

•

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

•

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

•

en:buffalo hump

•

en:benign soft tissue developmental anomalies

•

en:attacks precipitated by potassium

•

en:atrophy of anterior compartment tibial muscles

•

en:atrophic fibers seen on biopsy

•

en:arm/shoulder muscle hypoplasia

•

en:absence of pectoralis minor muscle

•

en:abnormal mitochondrial morphology

•

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

•

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

•

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

•

en:vacuolar degeneration

•

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

•

en:thick palmar fascia

•

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

•

en:small nerve terminals

•

en:signs of denervation seen on biopsy

•

en:shoulder girdle weakness

•

en:severe disability within 20 years of onset

•

en:secondary myopathic changes

•

en:ragged red fibers (in some patients)

•

en:quadriceps muscle spared

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

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

•

en:postexercise cmap amplitude facilitation

•

en:peroneal muscle atrophy

•

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

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:muscular dystrophy (in some patients)

•

en:muscle weakness, variable

•

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

•

en:muscle wasting due to chronic denervation

•

en:muscle stiffness (in older patients)

•

en:muscle pain (less common)

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle fiber splitting (in some patients)

•

en:muscle fiber atrophy, profound (rare)

•

en:muscle fatigability

•

en:muscle biopsy shows small rounded fibers

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

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

•

en:muscle biopsy shows glycogen storage

•

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

•

en:muscle biopsy shows atrophic fibers

•

en:muscle atrophy, upper and lower limbs

•

en:muscle atrophy (type i)

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:mtdna deletions seen on muscle biopsy

•

en:mri of the calves shows fatty atrophy with preservation of the medial gastrocnemius in the posteromedial compartment

•

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

•

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

•

en:mild distal muscle atrophy

•

en:mild atrophy of the proximal lower limbs

•

en:marked variability of fiber size

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

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

•

en:lymphedema of lower extremity

•

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

•

en:lipid droplets seen on muscle biopsy

•

en:limb weakness, proximal followed by distal

•

en:internal nuclei

•

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

•

en:hypotrophy of type 1 fibers

•

en:hypotonia, severe, neonatal

•

en:hypotonia, mild

•

en:hypotonia, infantile, severe

•

en:hypotonia (patient a)

•

en:hyporeflexia

•

en:hypoplasia of the hand muscles (29%)

•

en:hyaline plaques with absent oxidative activity

•

en:grip strength decreased

•

en:generalized hypotonia

•

en:fatty deposition

•

en:facial diplegia

•

en:extensor finger muscle weakness

•

en:exercise-induced muscle cramps

•

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

•

en:endplate abnormalities

•

en:electromyogram abnormal

•

en:distal myopathy (in 1 family)

•

en:distal muscles may be affected

•

en:distal muscle weakness occurs later

•

en:distal muscle wasting, mild

•

en:difficulty in toe walking

•

en:deposits immunoreactive to beta-amyloid protein

•

en:delayed ambulation

•

en:decreased muscle mass, especially distally

•

en:decreased endplate potential and amplitudes

•

en:decreased density of calcium release units

•

en:decreased achr

•

en:decreased ability to run

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

en:calcific tendinitis

•

en:biopsy muscle normal

•

en:atrophy, mild (in some cases)

•

en:atrophy of the intrinsic foot and hand muscles

•

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

•

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

•

en:uterine muscle may be stiff during pregnancy

•

en:thenar amyotrophy (rare)

•

en:tendinous and tuberous xanthoma

•

en:superior rectus atrophy

•

en:sparing of the anterior tibial compartment

•

en:shortened open channel duration

•

en:secondary loss of sarcolemmal caveolin-3

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:rhabdomyolysis

•

en:reduced subcutaneous fatty tissue

•

en:reduced lower limb subcutaneous fat

•

en:proximal muscle weakness (occasional)

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:prominent veins, lower limbs

•

en:positive staining for slow myosin heavy chain

•

en:poor muscle bulk

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:normal dystrophin immunostaining

•

en:nonspecific myopathic changes

•

en:neurogenic changes later in disease seen on emg

•

en:neck and proximal limb muscle myopathy

•

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

•

en:myopathy seen on emg

•

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

•

en:muscle weakness, severe, diffuse

•

en:muscle weakness, lower limbs, during exercise

•

en:muscle weakness, distal more than proximal

•

en:muscle weakness of proximal and distal upper and lower limbs

•

en:muscle weakness (hcs)

•

en:muscle rigidity

•

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

•

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

•

en:muscle biopsy shows myopathic changes

•

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

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:muscle biopsy shows chronic and active denervation

•

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

•

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

•

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

•

en:mitochondrial myopathy, severe

•

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

•

en:mitochondrial dna deletion (1 patient)

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:mild endplate myopathy

•

en:loss of gluteal adipose tissue

•

en:loss of antigravity strength

•

en:loss of adipose tissue occurs around puberty

•

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

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:internal nuclei seen on muscle biopsy

•

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

•

en:increased internal nuclei seen on muscle biopsy

•

en:increased endomysial connective tissue around muscle fibers

•

en:hypotrophy of the small hand muscles

•

en:hypotonia, axial, severe

•

en:hypotonia from birth to age 12

•

en:hypotonia (untreated hypothyroidism)

•

en:hypotonia (2 patients)

•

en:hyperactive deep tendon reflexes

•

en:hyaline inclusion

•

en:hip girdle muscle atrophy

•

•

en:hamstring muscle affected

•

en:group fiber atrophy (in some patients)

•

en:generalized neonatal hypotonia

•

en:generalized limb muscle atrophy

•

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

•

en:fiber type variation

•

en:exercise capacity decreased

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:emg shows high-frequency spontaneous discharges

•

en:dystrophic changes, mild, seen on muscle biopsy

•

•

en:difficulty standing

•

en:denervation seen on emg

•

en:decreased or absent ankle reflexes

•

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

•

en:decreased coenzyme q10 levels in muscle

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:decreased activity of mitochondrial complex i

•

en:decreased achr at the endplate

•

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

•

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

•

en:chronic fatigable muscles

•

en:casq1-immunopositive inclusions

•

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

•

en:calf muscle hypoplasia

•

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

•

en:axial muscle weakness

•

en:asymmetric muscle involvement

•

en:absence of merosin in muscle

•

en:muscle soft, tissue

•

en:weakness of neck muscles may occur later

•

en:upper limb involvement may occur later

•

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

•

en:type ii fiber predominance

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

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

•

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 dystrophic changes

•

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

•

en:relative sparing of the rectus femoris

•

en:redundancy of basal lamina with accumulated debris

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:proximal muscle weakness occurs later

•

en:proximal and distal muscle atrophy

•

en:primarily affects lower limbs

•

en:preserved nerve terminals seen on muscle biopsy

•

en:poor sarcomeric structure (in some patients)

•

en:poor head control in infancy

•

en:nuclear clumps

•

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

•

en:no facial muscle involvement

•

en:nemaline bodies

•

en:necrotic changes (finding)

•

en:necrosis and degeneration seen on muscle biopsy

•

en:neck flexor weakness

•

en:myopathic features seen on biopsy

•

en:myofibroma (in 1 patient)

•

en:myofibrillar lesions

•

en:muscular hypotonia of the trunk

•

en:muscle weakness, severe, axial and proximal predominance

•

en:muscle weakness, proximal greater than distal

•

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

•

en:muscle weakness, primarily proximal

•

en:muscle weakness, limb-girdle (lower and upper limbs may be affected)

•

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

•

en:muscle weakness (in 90% of patients)

•

en:muscle shows lipid accumulation

•

en:muscle pain and cramping on exertion

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:muscle biopsy shows dystrophic changes

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:loss of facial adipose tissue

•

•

en:lipohypoplasia, regional

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

•

en:increased numbers of abnormally-shaped mitochondria in subsarcolemmal areas

•

en:increased mitochondria with abnormal cristae

•

en:increased glycogen in muscle (but to a lesser extent than in the heart)

•

en:increased central nucleation

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:hypotonia, neonatal and later

•

en:heterotopic bone formation in subcutaneous fat

•

en:handgrip myotonia

•

en:glycogen deficiency in muscle fibers

•

en:gait abnormalities (occurs later)

•

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

•

en:fiber-type grouping pattern

•

en:fat droplets in sarcoplasm and mitochondria seen on skeletal muscle biopsy

•

en:exertional leg pain

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:enteroviral dermatomyositis syndrome

•

en:emg shows myopathic changes

•

en:easy bruisability of lower extremities

•

en:distal muscle weakness due to neuropathy

•

en:distal muscle atrophy, lower legs

•

en:distal limb muscle atrophy (less common)

•

en:difficulty walking

•

en:difficulty running

•

en:degenerative changes with increased connective tissue

•

en:decreased secondary clefts

•

en:decreased numbers of achr

•

en:decreased mtdna

•

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

•

en:cox-negative fibers

•

en:cox-depleted fibers

•

en:cold sensitivity has been reported

•

en:bulbar weakness

•

en:buffalo hump (rare)

•

en:ankle reflex absent

•

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

•

en:amyotrophy affects c5 to t1 myotomes

•

en:abnormal mitochondrial proliferation

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:variation in fibrodiameter seen on muscle biopsy

•

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

•

en:type 2 muscle fiber predominance

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

en:trunk muscle atrophy

•

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

•

en:toe and foot dorsiflexor weakness

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:small or absent axon terminals

•

en:skeletal myopathy

•

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

•

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

•

en:reduced postsynaptic cleft area

•

en:ragged red fibers seen on biopsy

•

en:proximal muscle weakness, mild

•

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

•

en:proximal muscle weakness (85% of patients)

•

en:proliferation of fatty tissue in muscle (in some patients)

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:painful muscle cramps

•

en:nonspecific myopathy

•

en:no muscle weakness

•

en:neonatal hypotonia

•

en:nemaline rods (in some patients)

•

en:neck muscle hypoplasia

•

•

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

•

en:muscle weakness, upper and lower limbs

•

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

•

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

•

en:muscle pain (in some patients)

•

en:muscle hematoma

•

en:muscle fiber immaturity

•

en:muscle biopsy shows lipid deposition

•

en:muscle biopsy shows inflammation with t cells

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:muscle biopsy shows grouped atrophy

•

en:muscle biopsy shows dystrophic pattern

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:lower limbs more often affected

•

en:loss of subcutaneous adipose tissue in limbs

•

en:lipoatrophy, generalized

•

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

•

en:intranuclear inclusions (1 family)

•

en:increased variability of fiber size seen on muscle biopsy

•

en:increased intraabdominal fat

•

en:increased internal nuclei (in some patients)

•

en:increased fatigability

•

en:increased connective tissue and fat

•

en:increased centralized internal nuclei

•

•

en:hypotonia (patient b)

•

en:hypertonicity (uncommon)

•

•

en:haemorrhage subcutaneous

•

en:glycogen accumulation seen on biopsy

•

en:generalized muscle weakness

•

en:fiber type grouping

•

en:fatty infiltration

•

en:fatty infiltration of affected muscles

•

en:fat accumulation in the suprabuttock area

•

en:extensive fatty infiltration on biopsy

•

en:exercise intolerance (cvs+)

•

en:enlarged nuclei with central pallor

•

en:emg shows myopathic pattern

•

en:emg may show myopathic features

•

en:electromyogram normal

•

en:edema of lower extremity

•

en:easy fatigue

•

en:dystrophic changes occur later

•

en:distal muscular atrophy due to peripheral neuropathy

•

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

•

en:distal muscle atrophy due to denervation

•

en:distal lower limb anterior compartment weakness

•

en:deltoid muscle hypoplasia

•

en:degrading mitochondria

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:decremental cmap response to repetitive nerve stimulation

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:decreased quantal release

•

en:decreased muscle mass (especially in lower limbs)

•

en:decreased muscle action potential after warming affected muscle

•

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

•

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

•

en:decreased exercise tolerance

•

en:decreased activity of mitochondrial complexes i and iv

•

en:congenital fiber type disproportion

•

en:centralized myonuclei

•

en:central cores seen on muscle biopsy

•

en:cellulitis in lower limbs, recurrent

•

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

•

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

•

en:biopsy shows dystrophic changes

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:bilateral foot drop

•

en:atrophy of upper girdle muscles

•

en:areflexia due to muscle weakness

•

en:angulated atrophic fibers

•

en:angular atrophic fibers

•

en:amyotrophy (1 patient)

•

en:absence of myotonia in infancy (congenital form)

•

en:abnormal size and shape of synaptic endplates

•

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

•

en:abnormal axons with sprouting and swelling

•

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

•

en:variation of myofiber diameter

•

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

•

en:upper limb muscle hypoplasia

•

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

•

en:tubular aggregates (in some patients)

•

en:secondary loss of merosin and desmin

•

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

•

•

en:rhabdomyolysis with exercise (in older patients)

•

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

•

en:reduced ankle dorsiflexion

•

en:recovery between attacks

•

en:painful adipose tissue

•

en:no myofibrillar abnormalities or protein aggregation

•

en:no muscle fiber necrosis

•

en:necrotic muscle fibers

•

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

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

en:myopathic changes seen on emg of affected muscle

•

en:myopathic changes seen on biopsy

•

en:myofibromatosis

•

en:myofibrillar disintegration

•

en:myalgia (in some patients)

•

en:muscular dystrophy

•

en:muscles do not contract upon electrical stimulation

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:muscle weakness associated with fasting or infection

•

en:muscle strength and bulk is preserved

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle fiber splitting

•

en:muscle cramps, painful, recurrent

•

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

•

en:muscle biopsy shows neurogenic atrophy

•

en:muscle biopsy shows myodegenerative changes with beta-amyloid and phosphorylated tau deposits

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle atrophy, mild

•

en:muscle atrophy restricted to the upper limb

•

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

•

en:marked lack of adipose tissue

•

en:lower limbs more affected than upper limbs

•

en:lipid and glycogen accumulation

•

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:increased variability in muscle fiber diameter

•

en:increased numbers of type 1 fibers

•

en:increased muscle tone in the lower limbs

•

en:increased endo- and perimysial connective tissue

•

en:inability to run

•

en:hypotonia, truncal and appendicular

•

en:hypotonia (patients a and c)

•

en:hangrip myotonia

•

en:hamstring and quadriceps muscles mildly affected

•

en:glycogenosis of skeletal muscle, mild (in some patients)

•

en:facial muscle weakness and atrophy, progressive

•

en:emg shows chronic denervation

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:edema reoccurs with infections

•

en:edema is present at birth and then slowly decreases

•

en:dystrophic changes may be present

•

en:distal muscle weakness, mild

•

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

•

en:distal muscle atrophy, predominantly affecting the lower limbs

•

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

•

en:degenerate mitochondrial on em

•

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

•

en:decreased muscle mitochondrial aconitase

•

en:decreased expression of the vdac1 protein

•

en:decreased atp production

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:congophilic amyloid material

•

en:cellulitis or infection may occur

•

en:attacks of weakness

•

en:atrophy of type i fibers

•

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

•

en:atrophy of neck muscles may occur later

•

en:ankle clonus

•

en:amyotrophy, neurogenic

•

en:acute rhabdomyolysis

•

en:absence of muscle pseudohypertrophy

•

en:abnormal iron deposition in mitochondria

•

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

•

en:muscle atrophy, lower limbs more affected than upper limbs

•

en:vacuolar myopathy

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:tubulofilamentous inclusions

•

en:tubular aggregates mainly in type 1 fibers

•

en:triceps weakness

•

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

•

en:tortuous lymphatic tracts

•

en:thin musculature

•

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

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy

•

en:spontaneous muscle activity

•

en:small atrophic fibers (in some patients)

•

en:skeletal muscle biopsy shows reducing bodies

•

en:shortening of various muscle-tendon groups in legs

•

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

•

en:proximal lower limb amyotrophy

•

en:progressive proximal muscle weakness

•

en:poor exercise tolerance

•

en:plantar fibromatosis

•

en:normal sensation

•

en:neurogenic atrophy seen on muscle biopsy

•

en:neonatal hypertonias

•

en:necrotic fibers

•

en:necrotic and regenerating muscle fibers

•

en:myopathy, mild to severe

•

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

•

en:myogenic changes seen on emg

•

en:myofibrillar disorganization

•

en:myofibril destruction (in some patients)

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:muscles become hard and tender during exercise

•

en:muscle weakness

•

en:muscle weakness, proximal and distal

•

en:muscle weakness, limb-girdle, mild

•

en:muscle weakness may affect upper limbs

•

en:muscle weakness following prolonged exercise

•

en:muscle weakness and atrophy

•

en:muscle weakness and atrophy, distal

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle hypertonia

•

en:muscle cramps may affect jaw muscles

•

en:muscle biopsy shows myofibrillar disruption

•

en:muscle biopsy shows loss of myofibrillar organization

•

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

•

en:motor clumsiness

•

en:mitochondrial swelling

•

en:minicores extend full fiber diameter

•

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

•

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

•

•

en:lipomas or lipomatous masses (most cases)

•

en:lipodystrophy (in some patients)

•

en:lipid droplet accumulation

•

en:increased visceral fat

•

en:increased number of small endplates

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:increased lipid

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:inclusions are tdp43-immunoreactive

•

en:inclusion body myopathy

•

en:hypoplasia of muscle

•

en:generalized muscle contractions, episodic

•

en:exertional fatigue

•

en:edema at birth

•

en:dystrophic features

•

en:distal muscle wasting due to peripheral neuropathy

•

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

•

en:disruption of the m-line

•

en:difficulty climbing stairs, jumping, running

•

en:degenerative features seen on muscle biopsy

•

en:decreased muscle succinate dehydrogenase

•

en:decreased muscle mass (in some patients)

•

en:decreased activity of complex i and complex iv

•

en:decreased activities of several mitochondrial respiratory enzymes

•

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

•

en:cranial muscles spared

•

en:cox-negative fibers seen on muscle biopsy

•

en:chronic weakness

•

en:calf muscle enlargement

•

en:calf hypertrophy (uncommon)

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:axial hypotonia (in some patients)

•

en:attacks precipitated by cold temperature

•

en:atrophy of shins

•

en:angulated fibers

•

en:absence of telethonin protein

•

en:absence of caveolin-3 staining

•

en:abnormal mitochondria with loss of cristae

•

en:abnormal fatigue

•

en:abnormal fat distribution

•

en:abnormal distribution of subcutaneous fat

•

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

•

en:walking delay

•

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

•

en:variable fiber size

•

en:variability in fiber size

•

en:vacuolar myopathy may occur

•

en:usually no myopathic changes on biopsy

•

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

•

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

•

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

•

en:small miniature endplate currents (mepc)

•

en:shortening of flexor profundus muscle-tendon unit

•

en:severe muscle hypotonia at birth

•

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

•

en:scapuloperoneal weakness

•

en:rectus fascia separation

•

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

•

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

•

en:proximal muscle atrophy (in some patients)

•

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

•

en:pharyngeal muscle weakness

•

en:nonspecific myopathy seen on biopsy

•

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

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9094207 • caches: c1=6 c2=1002 c3=1

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