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

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

Catégories

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Informations lexicales

Langue:anglais

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umls:C1839035

Associations d'idées

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1000

en:rhabdomyolysis, episodic

•

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

•

en:reduced muscle tone

•

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

•

en:decreased size of nerve terminals seen on muscle biopsy

•

en:fibromyalgia

•

en:minicores or core-like regions may be present

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle weakness and atrophy

•

en:rupture of tendon

•

en:proximal upper limb amyotrophy

•

en:thin musculature

•

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

•

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

•

en:generalized muscle weakness, proximal and distal

•

en:hypotrophy of type 1 fibers

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:myotonia is usually not seen

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:prolonged achr channel opening episodes

•

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

•

en:amyotrophy, neurogenic

•

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

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:extensive fatty infiltration on biopsy

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:tubulofilamentous inclusions

•

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

•

en:abnormal fat accumulation in the back (in some patients)

•

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

•

en:emg shows fasciculations

•

en:subcutaneous edema

•

en:lipid and glycogen accumulation

•

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

•

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

•

en:reduced subcutaneous adipose tissue

•

en:abnormal fat pad, buttocks and upper thighs (in some patients)

•

en:haemorrhage subcutaneous

•

en:multiple mitochondrial dna deletions

•

en:hypotonic

•

en:absence of muscle pseudohypertrophy

•

en:exercise intolerance (less common)

•

en:distal muscle weakness, predominantly lower limbs

•

en:cores of myofibrillar disruption with associated absence of mitochondria

•

en:biopsy muscle normal

•

en:myofibrillar lesions

•

en:skeletal muscle shows dystrophic changes

•

en:myopathy seen on emg

•

en:muscle biopsy shows neurogenic changes

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:rigidity (uncommon)

•

en:preserved junctional folds

•

en:swelling of the hands and feet, episodic

•

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

•

en:muscles become hard and tender during exercise

•

en:difficulty rising from a squatting position

•

en:atrophic muscle fiber on biopsy

•

en:myotonia seen on emg

•

en:abnormal fatigue

•

en:centrally located nuclei seen on muscle biopsy

•

en:congenital, nonprogressive myopathy

•

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

•

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

•

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

•

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

•

en:decreased cytochrome c oxidase staining

•

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

•

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

•

en:soft tissue vascular malformations

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:hyporeflexia or areflexia

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:minimal subcutaneous fat

•

en:myopathic changes seen on emg

•

en:rectus medial atrophy

•

en:pectoralis hypoplasia

•

en:affected muscles show atrophy

•

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

•

en:decreased coenzyme q10

•

en:decreased secondary clefts

•

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

•

en:generalized muscle weakness

•

en:phagocytic vacuoles with degraded membranous material

•

en:increased internal nuclei (in some patients)

•

en:lower limbs more often affected

•

en:necrotic muscle fibers

•

en:preserved nerve terminals seen on muscle biopsy

•

en:skeletal muscle weakness

•

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

•

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

•

en:distal amyotrophy (hands and feet)

•

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

•

en:isolated necrotic fibers

•

en:loss of gluteal adipose tissue

•

en:muscular dystrophy

•

en:skeletal muscle may show less severe mtdna deletion

•

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

•

en:winged scapula

•

en:aggregates contain granular electron-dense material

•

en:hypotonia (families a and b)

•

en:increased endo- and perimysial connective tissue

•

en:increased fat and fibrous tissue

•

en:myopathy with abnormal lipid metabolism

•

en:underdeveloped muscles (in some patients)

•

en:disruption of the m-line

•

en:distal muscle weakness due to peripheral neuropathy

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:muscular dystrophy (in some patients)

•

en:proximal limb muscle weakness (occurs later)

•

en:shoulder muscle weakness (in some patients)

•

en:absence of myotonia in infancy (congenital form)

•

en:casq1-immunopositive inclusions

•

en:benign soft tissue developmental anomalies

•

en:difficulty walking, running, climbing stairs

•

en:fatty infiltration

•

en:fiber-type grouping pattern

•

en:hypoplasia of serratus anterior muscle

•

en:marked variability of fiber size

•

en:muscle weakness, proximal, slowly progressive

•

en:myofibrillar disorganization

•

en:atrophy of upper girdle muscles

•

en:abnormal mitochondrial proliferation

•

en:decreased numbers of type 2b fibers

•

en:low muscle mass

•

en:muscle biopsy shows increased variation in fiber size

•

en:absence of telethonin protein

•

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

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:cores or minicores

•

en:electromyogram normal

•

en:generalized amyotrophy

•

en:increased intramuscular fat

•

en:calf hypertrophy (early in the disease)

•

en:virtually no active movement at birth (wws)

•

en:myopathic changes on pathology

•

en:muscle weakness (1 patient)

•

en:muscular stiffness

•

en:myofibrillar disintegration

•

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

•

en:myopathic changes seen on biopsy

•

en:myopathy, nonprogressive

•

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, proximal, distal, and axial, severe

•

en:nemaline bodies

•

en:muscle weakness, severe, proximal and distal

•

en:muscle pain and cramping on exertion

•

en:muscle weakness, particularly of the lower limbs

•

en:muscle weakness, hypokalemia-related

•

en:muscle weakness, distal, particularly affecting the hands

•

en:neurogenic changes

•

en:muscle pain (less common)

•

en:muscle hypertrophy

•

en:muscle hyperirritability

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle cramps during exercise

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

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

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:predominance of oxidative fibers

•

en:no muscle fiber necrosis

•

en:rhabdomyolysis

•

en:type 2 fiber predominance

•

en:tortuous lymphatic tracts

•

en:toe-walking gait

•

en:thigh hypertrophy

•

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

•

en:tendinous and tuberous xanthoma

•

en:symmetrical muscle wasting

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:structurally abnormal mitochondria

•

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

•

en:scattered necrotic fibers

•

en:replacement of affected muscle tissue with fatty tissue

•

en:pelvic girdle weakness and atrophy

•

en:reduced subcutaneous fatty tissue

•

en:reduced muscle tone but normal power

•

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

•

en:rectus abdominis muscle separation

•

en:pseudohypertrophy of muscle

•

en:proximal muscle weakness, less severe

•

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

•

en:proximal lower limb amyotrophy

•

en:progressive proximal muscle weakness

•

en:preserved heel standing

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:muscle atrophy in the limbs

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:decreased mitochondria

•

en:emg shows high-frequency spontaneous discharges

•

en:electromyogram abnormal

•

en:edema, generalized

•

en:dystrophic features seen on muscle biopsy

•

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

•

en:distal muscle wasting due to peripheral neuropathy

•

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

•

en:degenerating fibers

•

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

•

en:deep finger muscle weakness

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

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

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

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

•

en:decreased ability to run

•

en:cox-depleted fibers

•

en:cellulitis or infection may occur

•

en:calf muscle hypertrophy

•

en:calf hypertrophy (reported in 1 family)

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:biceps aplasia

•

en:angular fibers (in some patients)

•

en:abnormal iron deposition in mitochondria

•

en:variation of fiber size and shape

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:evidence of lymphatic rerouting

•

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

•

en:increased muscle tone (early in life)

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:muscle atrophy, diffuse, severe

•

en:mri may show cervical spinal cord atrophy

•

en:motor clumsiness

•

en:minipolymyoclonus

•

en:macroglossia

•

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

•

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

•

en:loss of adipose tissue occurs around puberty

•

en:loss of ability to walk in early childhood

•

en:lipoatrophy

•

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

•

en:exertional fatigue

•

en:increased echo intensity in affected muscles

•

en:inclusions are tdp43-immunoreactive

•

en:hypotonia (untreated hypothyroidism)

•

en:hypothenar muscle atrophy

•

en:hypoplasia of muscle

•

en:hyaline inclusion

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

en:giant granules in muscle cells

•

en:fiber type variation

•

en:fiber size variation seen on muscle biopsy

•

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

•

en:uterine muscle may be stiff during pregnancy

•

en:chronic fatigable muscles

•

en:velopharyngeal muscle weakness

•

en:muscle cramps (also seen in some heterozygotes)

•

en:muscle weakness may affect upper limbs

•

en:muscle weakness and atrophy, proximal

•

en:muscle weakness after cooling or on warming affected muscle

•

en:muscle weakness, symmetric, proximal, lower limbs

•

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

•

en:muscle weakness, primarily proximal

•

en:muscle weakness, predominantly proximal

•

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

•

en:muscle weakness, congenital

•

en:muscle wasting, progressive

•

en:muscle fiber regeneration

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:myopathy, mild to severe

•

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

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

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

•

en:muscle atrophy (in some patients)

•

en:muscle atrophy, limb-girdle and proximal

•

en:mitochondrial dna depletion (in some)

•

en:mitochondrial complex iii deficiency (disorder)

•

en:lymphangiectasia

•

en:low maximum workload on exercise testing

•

en:muscular atrophy

•

en:nemaline bodies are rarely intranuclear

•

en:loss of independent ambulation around age 12 years

•

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

•

en:wrist swelling

•

en:weakness of neck extensors (rare)

•

en:variation of myofiber diameter

•

en:walking may be limited

•

en:usually no myopathic changes on biopsy

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

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

•

en:triceps aplasia

•

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

•

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

•

en:subsarcolemmal mitochondrial aggregates

•

en:some patients become wheelchair-dependent

•

en:nemaline rods (in some patients)

•

en:small rounded fibers

•

en:severely decreased or absent lamp2 protein

•

en:pyruvate oxidation defect

•

en:proximal muscle weakness (occasional)

•

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

•

en:proximal and distal muscle atrophy in lower limbs

•

en:progressive loss of facial adipose tissue

•

en:poor sarcomeric structure (in some patients)

•

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

•

en:no lipodystrophy in face and neck

•

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

•

en:loss of truncal subcutaneous adipose tissue

•

en:vacuoles are autophagocytic

•

en:loss of ambulation between third and sixth decade

•

en:centralized myonuclei

•

en:degenerating junctional folds

•

en:decreased shank muscle mass

•

en:decreased quantal release

•

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

•

en:decreased hand grip strength

•

en:decreased exercise tolerance

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:decreased activity of mitochondrial complex iii

•

en:congophilic deposits

•

en:complex v deficiency

•

en:buffalo hump (rare)

•

en:deposits immunoreactive to beta-amyloid protein

•

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

•

en:biopsy shows dystrophic changes

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:autophagic rimmed vacuoles

•

en:attacks relieved by potassium administration

•

en:angulated atrophic fibers

•

en:abnormal mitochondria with paracrystalline inclusions 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:limb muscle weakness, proximal, upper and lower

•

en:wasting of calf muscles (rare)

•

en:depletion of mitochondrial dna

•

en:z-disk degeneration

•

en:distal lower limb muscle weakness

•

en:hypotonia, neonatal and later

•

en:distal lower limb muscle weakness due to peripheral neuropathy

•

en:large lipid droplets

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:inflammatory cells absent

•

en:increased perisarcolemmal calcium deposition

•

en:increased lipid

•

en:increased connective tissue (in some patients)

•

en:inclusions are dnajb6-immunoreactive

•

en:imaging shows progressive fatty infiltration of muscle

•

en:hypotonia (patients a and c)

•

en:hypotonia, severe (patient b)

•

en:jitter

•

en:hypotonia, mild

•

en:fiber type variation seen on biopsy

•

en:distal muscle atrophy due to neuropathy

•

en:edema

•

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

•

en:edema reoccurs with infections

•

en:easy bruisability of lower extremities

•

en:focal loss of cross striations seen on muscle biopsy

•

en:generalized weakness (adult-onset)

•

en:grip strength decreased

•

en:hand muscle atrophy

•

en:generalized muscle weakness (less common)

•

en:muscle weakness, proximal more than distal

•

en:neck muscle hypoplasia

•

en:myotonia is present in majority of cases

•

en:myopathic pattern seen on emg (in some patients)

•

en:myopathic pattern on emg

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

en:myokymia

•

en:myasthenic syndrome (hcs)

•

en:muscular appearance

•

en:muscle weakness lower limb

•

en:muscle wasting due to chronic denervation

•

en:muscle weakness, lower limbs (patient a)

•

en:muscle strength and bulk is preserved

•

en:muscle stiffness (in older patients)

•

en:muscle paralysis, episodic

•

en:muscle atrophy (1 patient)

•

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

•

en:muscle biopsy shows no dystrophic changes

•

en:muscle biopsy shows mild dystrophic changes

•

en:muscle biopsy shows glycogen storage

•

en:muscle biopsy shows dystrophic changes

•

en:necrotic and atrophic fibers with centralized nuclei seen on muscle biopsy

•

en:muscle biopsy may show inflammatory changes

•

en:quadriceps weakness

•

en:necrotic and regenerating muscle fibers

•

en:severe muscular hypotonia

•

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

•

en:mitochondrial paracrystalline inclusion bodies

•

en:swelling of the extremities, episodic

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:stiffness (uncommon)

•

en:spasm

•

en:sparing of anterior tibialis muscle

•

en:small miniature endplate potentials (mepp)

•

en:skeletal myopathy

•

en:short and thickened z-discs

•

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

•

en:neurogenic abnormalities seen on emg

•

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

•

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

•

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

•

en:postsynaptic abnormalities

•

en:pena-shokeir syndrome type i

•

en:no rods

•

en:no myofibrillar abnormalities or protein aggregation

•

en:normal phosphorylase kinase activity in muscle

•

en:normal or increased facial and neck adipose tissue

•

en:normal or increased adipose tissue around the neck

•

en:normal dystrophin immunostaining

•

en:muscle atrophy, primarily in the legs

•

en:emg may show neurogenic changes

•

en:minicores (in some)

•

en:decreased immunostaining for alpha-sarcoglycan

•

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

•

en:distal muscles may be affected

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:disorganization of the neuromuscular junction

•

en:difficulty climbing stairs, jumping, running

•

en:degeneration of junctional folds

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:decreased thiamine pyrophosphate

•

en:decreased numbers of achr seen on muscle biopsy

•

en:decreased muscle mitochondrial aconitase

•

en:decreased density of calcium release units

•

en:edema of dorsum of hands and feet

•

en:congophilic amyloid material

•

en:carpopedal spasm

•

en:calf pseudohypertrophy rare

•

en:calcium accumulation in junctional folds seen on muscle biopsy

•

en:ankle clonus

•

en:acquired partial lipodystrophy

•

en:absence of necrosis

•

en:abnormal fat distribution

•

en:abnormally long mitochondria seen on muscle biopsy

•

en:thickened subcutaneous tissue

•

en:dystrophic features

•

en:electron microscopy showed z-disk streaming

•

en:mild muscle atrophy in forearm muscles

•

en:increased fatty infiltration

•

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

•

en:many fibers with internal nuclei

•

en:lymphedema of the hands (in some patients)

•

en:lymphangitis, episodic

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:interosseus muscles involved

•

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

•

en:increased visceral fat

•

en:increased focal mitochondrial density

•

en:inability to jump or squat

•

en:emg consistent with chronic neurogenic disorder

•

en:hypotonia (cvs+)

•

en:hypotonia, infantile, severe

•

en:hypertonia in infancy

•

en:hyperactive deep tendon reflexes

•

en:hernia

•

en:hamstring muscle affected

•

en:granular deposits in the sarcomeres

•

en:gait unsteady

•

en:fatty deposition

•

en:endomysial fibrosis

•

en:emg shows neurogenic changes consistent with denervation

•

en:tetanus-like muscle contractions

•

en:muscle cramps, painful, recurrent

•

en:tubular aggregates seen on biopsy

•

en:muscle weakness, proximal and distal

•

en:pelvic girdle muscle atrophy

•

en:onset of lymphedema around puberty

•

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

•

en:nonspecific myopathic changes

•

en:nerve conduction studies normal

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:myopathy in approximately 45% of patients

•

en:myopathic and neurogenic changes seen on emg

•

en:muscle weakness usually does not occur

•

en:muscle weakness begins proximally

•

en:muscle weakness, mainly proximal

•

en:poor muscle build

•

en:muscle hypertrophy (meb)

•

en:muscle fatigue

•

en:muscle cramp

•

en:muscle biopsy shows small rounded fibers

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

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

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:muscle biopsy shows chronic and active denervation

•

en:muscle biopsy shows atrophy

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:pelvic girdle weakness

•

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

•

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

•

en:soft fleshy palms (50%)

•

en:ubiquinone decreased

•

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

•

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

•

en:weakness

•

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

•

en:upper limb muscle hypoplasia

•

en:umbilical hernia

•

en:umbilical cord bleeding

•

en:tibialis anterior muscle affected

•

en:stiffness

•

en:small miniature endplate currents (mepc)

•

en:predominantly lower limb lymphedema

•

en:small and incompletely fused muscle fibers seen on biopsy

•

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

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:scapuloperoneal amyotrophy

•

en:rupture of muscle

•

en:rimmed vacuoles on biopsy

•

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

•

en:reduced ankle dorsiflexion

•

en:quadriceps muscle spared

•

en:proximal weakness

•

en:proximal muscle weakness (85% of patients)

•

en:muscles have a woody consistency on palpation

•

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

•

en:mild weakness

•

en:calf hypertrophy (uncommon)

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:decreased collagen vi

•

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

•

en:decreased activities of several mitochondrial respiratory enzymes

•

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

•

en:cranial muscles spared

•

en:congenital muscular dystrophy (disorder)

•

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

•

en:coenzyme q10 deficiency

•

en:central nuclei

•

en:bilateral foot drop

•

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

•

en:atrophy, mild (in some cases)

•

en:atrophic fibers seen on biopsy

•

en:anasarca

•

en:abnormal size and shape of synaptic endplates

•

en:abnormal mitochondrial morphology

•

en:abnormal irregular myofibrillar network

•

en:variation in fibrodiameter seen on muscle biopsy

•

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

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:marked lack of adipose tissue

•

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

•

en:abnormalities in myofibril organization

•

en:deglutition disorders

•

en:group fiber atrophy (in some patients)

•

en:loss of facial adipose tissue

•

en:distal amyotrophy

•

en:loose connective tissue

•

en:limb muscular atrophy

•

en:limb-girdle muscular dystrophy

•

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

•

en:increased subcutaneous truncal adipose tissue

•

en:impaired heel-walking

•

en:hypotonia, neonatal, severe (hcs)

•

en:hamstring and quadriceps muscles mildly affected

•

en:lipoatrophy of trunk

•

en:global muscle weakness

•

en:emg shows myopathic or neurogenic changes

•

en:distal limb muscle atrophy, lower more than upper

•

en:distal muscle weakness due to neuropathy

•

en:gastrocnemius and soleus muscles most affected

•

en:emg shows increased insertion activity and fibrillation

•

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

•

en:facial diplegia

•

en:fiber type grouping

•

en:fibrillations in affected muscles

•

en:fatty degeneration of muscle seen on mri

•

en:fiber-type variability

•

en:myopathic changes seen on emg and muscle biopsy

•

en:myogenic changes seen on emg

•

en:muscle weakness is not a feature

•

en:muscle weakness (type i)

•

en:muscle weakness (in 90% of patients)

•

en:muscle weakness, proximal greater than distal

•

en:muscle pain following exercise (in some patients)

•

en:muscle fatigability

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle biopsy shows type i fiber predominance

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:muscle biopsy shows myofibrillar myopathy

•

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

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:mri shows fatty replacement

•

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

•

en:merosin-positive biopsy

•

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

•

en:lower limbs more affected than upper limbs

•

en:muscle atrophy (type i)

•

en:rare necrotic fibers

•

en:neck and proximal limb muscle myopathy

•

en:severe muscle hypotonia at birth

•

en:abnormal aggregates of desmin and filamin c

•

en:localized cellulitis

•

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

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:usually a unilateral disorder

•

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

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:some patients never achieve ambulation

•

en:shoulder weakness and atrophy

•

en:rhabdomyolysis with exercise (in older patients)

•

en:nemaline rod formation

•

en:reduced lower limb subcutaneous fat

•

en:ragged red fibers seen on biopsy

•

en:proximal muscles more often affected

•

en:premature exertional muscle weakness

•

en:pelvic girdle muscle weakness (occurs earlier)

•

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

•

en:patchy muscle fiber degeneration

•

en:paracrystalline inclusions

•

en:painful swelling in aponeuroses

•

en:loss of ambulation (in some patients)

•

en:distal lower limb muscle weakness and atrophy

•

en:lipid droplets seen on muscle biopsy

•

en:chronic denervation/reinnervation seen on emg

•

en:difficulty raising arms

•

en:degenerating mitochondria

•

en:decremental muscle response to repetitive nerve stimulation

•

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

•

en:decreased muscle bulk

•

en:decreased activity of respiratory complex i+iii

•

en:decreased activity of mitochondrial complex i

•

en:contractures of upper limbs (in some patients)

•

en:central cores seen on muscle biopsy

•

en:distal muscle weakness may occur

•

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

•

en:biopsy shows defects in pyruvate oxidation

•

en:bilateral facial weakness (congenital form)

•

en:autophagosome

•

en:attacks precipitated by rest after exercise

•

en:angioedema

•

en:amyloid deposition in muscle fibers occurs rarely

•

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

•

en:absence of merosin in muscle

•

en:difficulty running and jumping

•

en:easy fatigability

•

en:limb weakness, proximal followed by distal

•

en:generalized neonatal hypotonia

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:internal nuclei

•

en:inguinal hernia

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:increased internal nuclei

•

en:increased fatigue

•

en:hypoplasia of infraspinatus muscle

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:glycogen deficiency in muscle fibers

•

en:generalized muscle weakness, severe

•

en:emg shows myotonic changes

•

en:generalized muscle wasting

•

en:fragmented mitochondrial network

•

en:foot dorsiflexor weakness

•

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

•

en:flaccid weakness or paralysis, episodic attacks

•

en:fatty replacement

•

en:facial edema

•

en:exercise-induced muscle cramps

•

en:eosinophilic inclusions

•

en:abnormal variation in fiber type seen on muscle biopsy

•

en:distal limb muscle weakness occurs later

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:muscle biopsy shows myopathic changes

•

en:neonatal hypotonia

•

en:myopathy (in some patients)

•

en:myofibrillar myopathy

•

en:muscular hypotonia of the trunk

•

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

•

en:muscle stiffness or aching

•

en:muscle pain after exercise

•

en:muscle hematoma

•

en:muscle biopsy shows mitochondrial aggregates

•

en:normal or increased facial adipose tissue

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle atrophy, progressive

•

en:mitochondria show paracrystalline inclusions

•

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

•

en:lymphedema

•

en:loss of subcutaneous fat

•

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

•

en:lipomas or lipomatous masses (most cases)

•

en:lipid droplet accumulation

•

en:nonspecific myopathy

•

en:no dystrophic changes

•

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

•

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

•

en:weakness and wasting of the lower limbs

•

en:vacuolar myopathy

•

en:type 1 fiber atrophy

•

en:superficial rerouting of lymph through the skin

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:small atrophic muscle fibers

•

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

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:shoulder muscle weakness

•

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

•

en:nuclear clumps

•

en:ring fibers

•

en:ragged-red muscle fibers

•

en:quadriceps atrophy

•

en:proximal muscle weakness in lower limbs

•

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

•

en:proximal muscle atrophy (in some patients)

•

en:proximal muscles may be mildly affected

•

en:pectoralis major hypoplasia

•

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

•

en:limb hypertonia

•

en:shoulder weakness

•

en:increased number of small endplates

•

en:cytoplasmic inclusion bodies (finding)

•

en:difficulty walking and climbing stairs (patient a)

•

en:denervation

•

en:degenerative changes with increased connective tissue

•

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

•

en:decreased numbers of achr

•

en:decreased muscle succinate dehydrogenase

•

en:decreased muscle mass in the thighs

•

en:decreased muscle bulk (in one patient)

•

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

•

en:contractures of distal lower limbs

•

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

•

en:congenital absence of gluteal muscles

•

en:centralized nuclei may be seen

•

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

•

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

•

en:axial hypotonia (in some patients)

•

en:attacks may present during or after sleep

•

en:atrophy of type 1 and type 2 fibers

•

en:ankle edema (finding)

•

en:increased lysosomal glycogen

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

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

•

en:distal muscle weakness, lower legs

•

en:generalized muscle hypertrophy

•

en:increased internal nuclei seen on muscle biopsy

•

en:distal muscle weakness, upper and lower limbs

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:hypotonia (45%)

•

en:hypertonia at birth

•

en:hemihypertrophy of right arm and leg (rare)

•

en:hematoma

•

en:gluteus maximus and thigh adductors most affected

•

en:generalized muscular appearance from birth

•

en:hypoplasia of latissimus dorsi muscle

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:exercise-induced muscle fatigue

•

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

•

en:edema (hands and feet)

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:emg shows myopathic changes

•

en:exertional leg pain

•

en:facial muscle atrophy

•

en:familial generalized lipodystrophy

•

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

•

en:distal muscle weakness in lower limbs, severe

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle fiber necrosis

•

en:muscle biopsy shows myopathic or dystrophic changes

•

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

•

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

•

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

•

en:mitochondria dna deletion

•

en:lower limb atrophy

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:mild muscular hypotonia

•

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

•

en:lipoma

•

en:lack of antigravity movements (patient b)

•

en:involves upper and lower proximal muscles

•

en:muscle weakness, proximal, limb-girdle

•

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

•

en:muscle weakness, distal (in some patients)

•

en:poor musculature

•

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

•

en:prominent involvement of the biceps brachii muscles

•

en:rounded, atrophic fibers (family a)

•

en:quadriceps aplasia

•

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

•

en:proximal muscle weakness in upper limbs

•

en:proximal muscle weakness, mild

•

en:proximal muscle weakness, lower limbs, mild

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:increased muscle tone in the lower limbs

•

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

•

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

•

en:no facial muscle involvement

•

en:nonspecific myopathic changes seen on biopsy

•

en:neuropathic or myopathic changes seen on emg

•

en:nemaline rods (rare)

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:myalgia, episodic

•

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

•

en:exercise-induced weakness

•

en:increased fibrosis (family a)

•

en:attacks usually decrease or disappear after age 40 years

•

en:decreased complex i activity (rare)

•

en:decreased coenzyme q10 levels in muscle

•

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

•

en:cervical muscle weakness

•

en:cellulitis due to immunodeficiency

•

en:calf muscle pseudohypertrophy

•

en:calf hypertrophy (in some patients)

•

en:atrophy of the thenar and hypothenar muscles

•

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

•

en:atrophy of the intrinsic foot and hand muscles

•

en:atrophic muscle fibers

•

en:apoptotic nuclei

•

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

•

en:absence of collagen vi immunostaining

•

en:abnormal sarcoplasmic reticulum elements

•

en:scapuloperoneal muscular atrophy due to denervation

•

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

•

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

•

en:increased fiber size variability

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:increased falls

•

en:increased adipose fibrosis

•

en:hypotonia, severe, persistent

•

en:hypotonia, profound

•

en:hyporeflexia

•

en:histochemically normal type-ii muscle fibers

•

en:gowers sign (patient a)

•

en:fat pad between achilles tendon and medial malleolus

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

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

•

en:endplate myopathy

•

en:easy fatigue

•

en:disuse atrophy

•

en:distal limb muscle weakness (less common)

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:degenerative features seen on muscle biopsy

•

en:decreased glycosylation of alpha-dystroglycan

•

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

•

en:small round skeletal muscle fibers

•

en:muscle hypertrophy may occur

•

en:normal or increased abdominal adipose tissue

•

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

•

en:neurogenic atrophy seen on muscle biopsy

•

en:nemaline bodies occur in type 1 fibers

•

en:necrotic changes (finding)

•

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

•

en:muscle weakness, mild, proximal and distal

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:percussion myotonias

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

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

•

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

•

en:multi-core congenital myopathy

•

en:mtdna deletions seen on muscle biopsy

•

en:minicores extend full fiber diameter

•

en:marked muscular hypertrophy

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:peroneal muscle atrophy

•

en:limb-girdle muscle atrophy

•

en:scapuloperoneal weakness

•

en:symptoms may be induced by heat

•

en:wide variation in fiber size

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:tubular aggregates (in some patients)

•

en:thenar eminence hypoplasia

•

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

•

en:shortening of various muscle-tendon groups in legs

•

en:relative muscle weakness, especially in pelvic girdle

•

en:pharyngeal muscle weakness

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:proximal myopathy

•

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

•

en:proximal limb muscle weakness initially

•

en:protein aggregates immunopositive for actin and desmin

•

en:progression to proximal muscle weakness

•

en:primarily affects lower limbs

•

en:lipoatrophic appearance

•

en:poor development of the postsynaptic membrane

•

en:leg edema

•

en:amyotrophy (1 patient)

•

en:decreased mitochondrial respiratory chain complex activity

•

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

•

en:decreased activity of complexes ii+iii

•

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

•

en:congenital myopathy (in one patient)

•

en:calf muscle hypoplasia

•

en:a subset of patients develop bilateral weakness

•

en:amyotrophy, distal, upper and lower limbs

•

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

•

en:amorphous granulofilamentous material associated with z-discs

•

en:'hanging' big toe

•

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

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

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

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:thenar amyotrophy (rare)

•

en:decreased muscle action potential after warming affected muscle

•

en:areflexia due to muscle weakness

•

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

•

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

•

en:increased glycogen

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:increased fibrosis (in some patients)

•

en:hypotonia, severe, neonatal

•

en:hypertonicity of the lower limbs

•

en:hang weakness

•

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

•

en:hypertonia late

•

en:internal nuclei (in some patients)

•

en:edema is present at birth and then slowly decreases

•

en:edema, subcutaneous, generalized

•

en:distal muscle weakness occurs later

•

en:distal muscle atrophy due to denervation

•

en:distal lower limb amyotrophy

•

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

•

en:delayed ambulation

•

en:increased fibrosis

•

en:infantile axial hypotonia

•

en:increased variation in muscle fiber diameter

•

en:increased variability in muscle fiber diameter

•

en:hypotonia, axial, severe

•

en:hyporeflexia in affected muscles

•

en:increased endomysial fibrosis

•

en:inability to stand on tiptoes

•

en:limb weakness and atrophy

•

en:increased centralized internal nuclei

•

en:muscle atrophy (variable)

•

en:lipoatrophy, generalized

•

en:loss of achr

•

en:loss of ambulation

•

en:lower limb muscle hypotrophy

•

en:motor delay

•

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

•

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

•

en:muscle biopsy shows dystrophic pattern

•

en:gait, drop foot

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:glycogen accumulation seen on biopsy

•

en:cores contain densely packed myofilaments

•

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

•

en:disruption of sarcomeres with disorganization of the z band

•

en:muscle fiber splitting (in some patients)

•

en:atrophy of shins

•

en:attacks precipitated by cold temperature

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:changes in sarcoplasmic reticulum and t-tubules

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

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

•

en:decreased mitochondrial respiratory complexes i and iv

•

en:difficulty walking up stairs

•

en:distal muscle weakness, mild

•

en:flaccid neck

•

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

•

en:easy fatigability with exercise

•

en:emg shows fibrillation potentials

•

en:emg shows myopathy

•

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

•

en:endplate abnormalities

•

en:enlarged mitochondria

•

en:exercise intolerance (patient a)

•

en:fat pad anterior to malleolus

•

en:finger and wrist extensor weakness

•

en:muscle cramps at rest

•

en:weakness of anterior compartment tibial muscles

•

en:muscle hypotonia

•

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

•

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

•

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

•

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

•

en:tubular aggregates seen on muscle biopsy

•

en:type 1 fiber predominance

•

en:upper limb involvement may occur later

•

en:vacuolar degeneration

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:variability in fiber size

•

en:walking delay

•

en:signs of denervation seen on biopsy

•

en:mitochondrial myopathy with diabetes

•

oedème du visage

•

en:dysphagia

•

oedème

•

faiblesse musculaire

•

déficit en cytochrome oxydase

•

en:secondary hypertrophy

•

en:distal limb atrophy (upper and lower)

•

en:subcutaneous fat markedly reduced

•

en:small nerve terminals

•

en:shortened open channel duration

•

en:muscle mounding

•

en:necrosis

•

en:muscle weakness, limb-girdle, mild

•

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

•

en:muscle weakness (hcs)

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle weakness following prolonged exercise

•

en:muscle weakness in forearm muscles

•

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

•

en:myasthenias

•

en:myofibroma (in 1 patient)

•

en:neonatal edema (in some patients)

•

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

•

en:normal neonatal period may occur before weakness is apparent

•

en:no staining for oxidative enzymes

•

en:painful muscle cramps

•

en:pelvic muscle involvement occurs later

•

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

•

en:proximal muscle weakness

•

en:ragged-red fibers on muscle biopsy

•

en:reduced muscle mass

•

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

•

en:severe form shows absence of spontaneous activity at birth

•

en:atrophy of anterior compartment tibial muscles

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119622 • caches: c1=6 c2=1002 c3=1

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