Le Diko - en:phagocytic vacuoles with degraded membranous material

waiting

Le Diko - en:phagocytic vacuoles with degraded membranous material

Javascript doit fonctionner ! Activez-le et rechargez cette page.

le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

en:phagocytic vacuoles with degraded membranous material

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:weakness of the anterior tibial muscle and toe extensors

•

en:attacks precipitated by potassium

•

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

•

en:decreased muscle mass, especially distally

•

en:degenerating fibers

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:limb-girdle muscular dystrophy

•

en:proximal muscle weakness (in some patients)

•

en:abnormal irregular myofibrillar network

•

en:lymphangiectasia

•

en:centralized myonuclei

•

en:cytoplasmic inclusion bodies (finding)

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:increased adipose fibrosis

•

en:muscle weakness of limb

•

en:myotonia is present in majority of cases

•

en:neurogenic changes

•

en:relative muscle weakness, especially in pelvic girdle

•

en:progressive interictal weakness is common

•

en:delayed motor development (cvs+)

•

en:increased fat and fibrous tissue

•

en:internal nuclei (in some patients)

•

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

•

en:muscle weakness, severe, diffuse

•

en:muscle weakness restricted to the upper limb

•

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

•

en:poor head control in infancy

•

en:umbilical depression

•

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

•

en:abnormal axons with sprouting and swelling

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:decreased mitochondrial respiratory complexes i and iv

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:muscle atrophy in the limbs

•

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

•

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

•

en:z-line streaming see on electron microscopy

•

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

•

en:increased fibrosis

•

en:limb muscular atrophy

•

en:mild distal muscle atrophy

•

en:muscle biopsy shows mitochondrial aggregates

•

en:normal neonatal period may occur before weakness is apparent

•

en:'hanging' big toe

•

en:thenar muscle atrophy

•

en:atrophy of upper girdle muscles

•

en:flaccid weakness or paralysis, episodic attacks

•

en:lipodystrophy (in some patients)

•

en:muscle biopsy shows myofibrillar myopathy

•

en:muscle weakness, distal more than proximal

•

en:muscle weakness, episodic

•

en:alimentary edema

•

en:decreased ability to run

•

en:endplate abnormalities

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:muscle stiffness or aching

•

en:hypertonicity of the lower limbs

•

en:muscular dystrophy (in 1 of 3 patients)

•

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

•

en:ubiquinone decreased

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

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

•

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

•

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

•

en:increased mitochondria with rare paracrystalline inclusions

•

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

•

en:proximal muscle weakness, less severe

•

en:pelvic girdle weakness

•

en:decreased lipoic acid

•

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

•

en:loose connective tissue

•

en:mildly decreased cytochrome c oxidase activity

•

en:muscle weakness and atrophy, proximal

•

en:emg may showed myotonic discharges

•

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

•

en:bilateral foot drop

•

en:calf hypertrophy (early in the disease)

•

en:increased fibrosis (family a)

•

en:mild weakness of the small hand muscles

•

en:muscle biopsy shows centralized nuclei

•

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

•

en:muscle weakness begins proximally

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:fibrous dysplasia (rare)

•

•

en:lymphedema (lower limb)

•

en:hemihypertrophy of right arm and leg (rare)

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:muscle pain (less common)

•

en:normal sensation

•

en:thickening of fascia of forearm

•

en:myopathy, myofibrillar, 3

•

en:immunoreactivity for z-disk proteins

•

en:progressive proximal muscle weakness

•

en:biopsy shows myopathy without vacuoles

•

en:rimmed vacuoles

•

en:ragged red fibers seen on biopsy

•

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

•

en:positive staining for atpase activity at ph of 4.3

•

en:myopathic changes seen muscle biopsy

•

en:muscle atrophy (variable)

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:decremental compound muscle action potential on repetitive stimulation

•

en:hypotonia, mild (1 patient)

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:pena-shokeir syndrome type i

•

en:superficial rerouting of lymph through the skin

•

en:increased visceral fat

•

en:severely decreased or absent lamp2 protein

•

en:progressive proximal muscle involvement

•

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

•

en:muscle weakness, proximal, limb-girdle

•

en:muscle weakness, hypokalemia-related

•

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

•

en:muscle biopsy shows abnormal mitochondria

•

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

•

en:nonspecific myopathic changes

•

en:accumulation of abnormal mitochondria

•

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

•

en:disruption plasma membrane (in some patients)

•

•

en:loss of facial adipose tissue

•

en:lower limb muscle hypotrophy

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:muscle weakness (in some patients)

•

en:variation of myofiber diameter

•

en:preserved junctional structure seen on muscle biopsy

•

en:decreased spontaneous miniature endplate potentials (mepp)

•

en:increased muscle lipid content

•

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

•

en:muscle weakness, proximal more than distal

•

en:neurogenic changes seen on emg

•

en:pelvic girdle weakness and atrophy

•

en:retroperitoneal fibrosis (rare)

•

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

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:no ragged-red fibers

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:pelvic muscle involvement occurs later

•

en:proximal and distal muscle atrophy

•

en:plasma membrane discontinuities

•

en:poor muscle bulk

•

en:progressive distal muscle weakness

•

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

•

en:neonatal hypotonia

•

•

en:myopathy in approximately 45% of patients

•

en:myopathic changes seen on emg of affected muscle

•

en:myopathic changes seen on emg

•

en:myopathic changes early in disease seen on emg

•

en:proximal muscle weakness, mild

•

en:muscle weakness, primarily proximal

•

en:muscle weakness, predominantly proximal

•

en:muscle fatigue

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:muscle biopsy shows dystrophic pattern

•

en:muscle atrophy later in the disease

•

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

•

en:relatively preserved limb strength

•

en:proximal muscle weakness (120270.0002)

•

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

•

en:benign soft tissue developmental anomalies

•

en:attacks precipitated by cold temperature

•

en:arm/shoulder muscle hypoplasia

•

en:absence of merosin in muscle

•

en:abnormal distribution of subcutaneous fat

•

en:abnormalities in myofibril organization

•

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

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:usually a unilateral disorder

•

en:tubular aggregates seen on biopsy

•

en:superior rectus atrophy

•

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

•

en:spontaneous muscle activity

•

•

en:sparing of the anterior tibial compartment

•

en:soft tissue or tendinous calcinosis may occur

•

en:skeletal muscle biopsy shows reducing bodies

•

en:shoulder weakness and atrophy

•

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

•

en:repetitive response to single nerve stimulation

•

en:muscles have a woody consistency on palpation

•

en:reduced lower limb subcutaneous fat

•

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

•

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

•

en:mri shows fatty infiltration of affected muscles

•

en:calf muscle pseudohypertrophy

•

en:degenerating mitochondria

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

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

•

en:decreased postsynaptic length

•

en:decreased mitochondria

•

en:decreased activity of mitochondrial complex i

•

en:decreased activity of complex i and complex iv

•

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

•

en:calf pseudohypertrophy rare

•

en:calf hypertrophy (in some patients)

•

en:distal leg muscle atrophy

•

en:calf atrophy (later onset)

•

en:biceps aplasia

•

en:autophagosome

•

en:atrophic fibers

•

•

en:angular fibers (in some patients)

•

en:acute rhabdomyolysis

•

en:absence of collagen vi immunostaining

•

en:abnormal iron deposition in mitochondria

•

en:calf muscle hypoplasia

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

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

•

en:mitochondria show paracrystalline inclusions

•

en:generalized muscular appearance from birth

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

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

•

en:limb weakness and atrophy

•

en:lack of facial subcutaneous fat

•

en:inflammatory cells absent

•

en:increased variability in muscle fiber diameter

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:hypotonia, mild

•

en:hypoplasia of the hand muscles (29%)

•

en:hang weakness

•

en:generalized muscle hypertrophy

•

en:distal muscle atrophy due to neurologic disease

•

en:generalized amyotrophy

•

en:frequent falls

•

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

•

en:floppy infant syndrome

•

en:fiber size variation

•

en:facial muscle atrophy

•

en:exercise intolerance (patient a)

•

en:exercise intolerance (cvs+)

•

en:emg shows increased insertion activity and fibrillation

•

en:electron microscopy showed z-disk streaming

•

en:buffalo hump (rare)

•

en:distal muscle weakness, mild

•

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

•

en:normal lamp2 staining (309060)

•

en:preserved nerve terminals seen on muscle biopsy

•

en:preserved junctional folds

•

en:poor muscle build

•

en:pharyngeal muscle weakness

•

en:patchy muscle fiber degeneration

•

en:pain or cramping during sustained manual activity

•

en:no staining for periodic acid schiff (pas)

•

en:no muscle fiber necrosis

•

en:normal or increased facial and neck adipose tissue

•

en:nonspecific myopathic changes seen on biopsy

•

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

•

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

•

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

•

en:myasthenic syndrome (hcs)

•

en:muscle weakness (in 90% of patients)

•

en:muscle weakness, severe, proximal and distal

•

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

•

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

•

en:muscle weakness, particularly of the lower limbs

•

en:muscle weakness, mainly proximal and axial

•

en:muscle wasting due to chronic denervation

•

en:progressive distal and proximal symmetric limb weakness

•

en:proximal muscle weakness (occasional)

•

en:muscle fibers appear as fetal myotubules

•

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

•

•

en:centrally nucleated skeletal muscle fibers

•

en:variable fiber size

•

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

•

en:type ii fiber atrophy seen on muscle biopsy

•

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

•

en:tubular aggregates (in some patients)

•

en:transient neonatal hypotonia (less common)

•

en:thickened endplate basal lamina seen on muscle biopsy

•

en:thenar eminence hypoplasia

•

en:subcutaneous edema

•

en:proximal myopathy

•

en:sparing of small hand and finger muscles

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:shortened open channel duration

•

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

•

en:scapuloperoneal weakness

•

en:rimmed vacuoles on biopsy

•

en:redundancy of basal lamina with accumulated debris

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:ragged-red muscle fibers

•

en:muscle pain and cramping on exertion

•

en:prominent musculature

•

en:muscle biopsy shows type i fiber predominance

•

en:distal lower limb muscle weakness

•

en:generalized hypotonia

•

en:firm muscles

•

en:fiber size variation seen on muscle biopsy

•

en:fatty infiltration of affected muscles

•

en:facial edema

•

en:exercise-induced muscle cramps

•

en:emg shows high-frequency spontaneous discharges

•

en:edema reoccurs with infections

•

en:distal muscle atrophy, predominantly lower limbs

•

en:disorganization of the myofibrillar pattern

•

en:granular deposits in the sarcomeres

•

en:difficulty running or inability to run

•

en:difficulty in toe walking

•

en:depletion of mitochondrial dna

•

en:denuded postsynaptic regions

•

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

•

en:decreased quantal release

•

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

•

en:decreased ant1 protein (103220) in muscle tissue

•

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

•

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

•

en:generalized muscle wasting

•

en:easy fatigability with exercise

•

en:cores or minicores

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:hip girdle muscle atrophy

•

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

•

en:muscle biopsy may show inflammatory changes

•

en:muscle activity is electrically silent on emg

•

en:multiple mitochondrial dna deletions

•

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

•

en:loss of subcutaneous fat, diffuse

•

en:loss of ambulation (in some patients)

•

en:localized cellulitis

•

en:loss of gluteal adipose tissue

•

en:levator palpebrae superioris atrophy

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:hyporeflexia

•

en:hypotonia, severe, persistent

•

en:imaging shows muscle atrophy and fatty replacement

•

en:increased fatty infiltration

•

en:hypotonia, truncal and appendicular

•

en:increased staining for myotilin, dystrophin, desmin

•

en:infantile muscular hypotonia

•

en:inguinal hernia

•

en:nemaline rods may be observed

•

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

•

en:necrotic changes (finding)

•

•

en:neuropathic process seen on muscle biopsy

•

en:myofibromatosis

•

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

•

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

•

en:muscle weakness may affect upper limbs

•

en:muscle weakness after cooling or on warming affected muscle

•

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

•

en:muscle cramps at rest

•

en:muscle weakness, lower limbs, during exercise

•

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

•

en:muscle weakness, congenital

•

en:muscle wasting, progressive

•

en:muscle rigidity

•

en:muscle hypertonia

•

en:muscle hematoma

•

en:muscle fiber splitting (in some patients)

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle cramp

•

en:normal mitochondrial morphology (1 patient)

•

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

•

en:symmetrical muscle wasting

•

en:painful swelling in fasciae

•

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

•

en:muscle amyotrophy

•

en:thickened subcutaneous tissue

•

en:tendinous and tuberous xanthoma

•

en:swelling of the extremities, episodic

•

en:subsarcolemmal mitochondrial accumulation

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:some abnormal aggregation of mitochondria

•

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

•

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

•

en:rounded, atrophic fibers (family a)

•

en:replacement of affected muscle tissue with fatty tissue

•

en:pelvic girdle muscle atrophy

•

en:ragged-red fibers seen on muscle biopsy

•

en:proximal muscle weakness occurs later

•

en:proximal muscle involvement may occur

•

en:proximal lower limb amyotrophy

•

en:proximal limb muscle weakness (occurs later)

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

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

•

en:progressive muscle weakness

•

en:postsynaptic abnormalities

•

en:plantar fibromatosis

•

en:peroneal muscle atrophy

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:absence of laminin alpha-2 chain in muscle

•

en:mitochondrial proliferation

•

en:congenital fiber type disproportion

•

en:distal amyotrophy (hands and feet)

•

en:difficulty walking and climbing stairs

•

en:difficulty running and jumping

•

en:difficulty climbing stairs, jumping, running

•

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

•

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

•

en:decreased mtdna

•

en:decreased immunostaining for alpha-sarcoglycan

•

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

•

en:decreased expression of the vdac1 protein

•

en:cores extend along length of muscle fiber

•

en:centrally located nuclei seen on muscle biopsy

•

en:distal muscle atrophy, predominantly affecting the lower limbs

•

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

•

en:attacks usually decrease or disappear after age 40 years

•

en:attacks of weakness

•

en:attacks last 4 to 24 hours

•

en:atrophy of type i fibers

•

en:atrophic skeletal muscle fibers on myosin staining

•

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

•

en:abnormal subcutaneous fat tissue distribution

•

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

•

en:abnormal mitochondria

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:distal limb muscle weakness occurs later

•

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

•

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

•

en:hypotonia, severe, neonatal

•

en:mild weakness

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:lymphedema of the extremities

•

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

•

en:loss of ambulation between third and sixth decade

•

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

•

en:increased numbers of type 1 fibers

•

en:increased muscle glycogen content

•

en:increased connective tissue and fat in muscles

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:inability to stand on tiptoes

•

en:hypertonia at birth

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:humeroperoneal weakness and atrophy

•

•

en:gowers sign present

•

en:gait abnormality

•

en:flaccid neck

•

en:fibrillations in affected muscles

•

en:emg shows myopathy

•

en:emg shows myopathic changes

•

en:electromyogram abnormal

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:disuse atrophy

•

en:tortuous lymphatic tracts

•

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

•

en:upper limb involvement occurs later or not at all

•

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

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle biopsy shows glycogen storage

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:mri shows fatty replacement

•

en:mitochondrial paracrystalline inclusion bodies

•

en:mitochondrial complex i deficiency

•

en:minipolymyoclonus

•

en:mild muscle atrophy in forearm muscles

•

en:loss of lower-limb tendon reflexes

•

en:lipid accumulation in muscle tissue

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:limb-girdle myopathy

•

en:leg cramps may occur with exercise

•

en:large hypertrophied fibers

•

en:increased length of endplate regions seen on muscle biopsy

•

en:hypotonia (in some patients)

•

en:hypotonia, neonatal (in some patients)

•

en:hypotonia, generalized, severe

•

en:hyporeflexia of lower limbs

•

en:hypoplasia of supraspinatus muscle

•

en:hangrip myotonia

•

en:gowers sign (patient a)

•

en:muscle biopsy shows nemaline rods

•

en:muscle cramps during exercise

•

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

•

en:proximal muscle weakness, limb-girdle distribution

•

en:uterine muscle may be stiff during pregnancy

•

en:vacuoles are autophagocytic

•

en:upper limb involvement may occur later

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:small miniature endplate currents (mepc)

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:shortening of various muscle-tendon groups in legs

•

en:reduced muscle tone

•

en:reduced muscle mass

•

en:quadriceps muscle spared

•

en:quadriceps atrophy

•

en:proximal limb muscle weakness initially

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:normal phosphorylase kinase activity in muscle

•

en:nemaline rods (rare)

•

en:neck muscle hypoplasia

•

en:myotonia (delayed muscle relaxation after contraction)

•

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

•

en:myopathic pattern on emg

•

en:myofibrillar disintegration

•

en:muscular fasciculation

•

en:muscular appearance

•

en:muscle weakness trunk

•

en:glycogen deficiency in muscle fibers

•

en:proximal and distal muscle atrophy in lower limbs

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:calf hypertrophy (less common)

•

en:decreased collagen vi

•

en:decreased coenzyme q10 content

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:decreased activity of mitochondrial complex iii

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:cox-negative fibers

•

en:congophilic deposits

•

en:congenital myopathy (in one patient)

•

en:changes in sarcoplasmic reticulum and t-tubules

•

en:casq1-immunopositive inclusions

•

en:atrophy of anterior compartment tibial muscles

•

en:decreased muscle mass (in some patients)

•

en:atrophy, mild (in some cases)

•

en:absence of telethonin protein

•

en:abnormal muscle tone

•

en:widening of the synaptic cleft

•

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

•

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

•

en:wasting of calf muscles (rare)

•

en:vacuoles in the myofiber cytoplasm

•

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

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:generalized limb muscle atrophy

•

en:decreased distal reflexes

•

en:abnormal mitochondrial morphology

•

en:decreased postsynaptic achr

•

en:distal muscle weakness occurs later

•

en:focal loss of cross- striations

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:fibrillation

•

en:fiber type variation

•

en:fat accumulation in the suprabuttock area

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:emg shows myopathic features

•

en:emg shows myopathic and neurogenic changes

•

en:electromyogram normal

•

en:dorsal and flexor muscles of the forearm are involved

•

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

•

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

•

en:distal muscle atrophy, affecting the lower limbs

•

en:degenerating junctional folds

•

en:decremental cmap response to repetitive nerve stimulation

•

en:degenerating nerve terminals

•

en:difficulty walking and climbing stairs (patient a)

•

•

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

•

en:distal muscle atrophy due to neuropathy

•

en:distal muscle wasting, mild

•

en:distal muscle weakness, lower legs

•

en:degenerate mitochondrial on em

•

en:myopathic and neurogenic changes seen on emg

•

en:myopathic features seen on biopsy

•

en:muscle wasting (especially legs and arms)

•

en:myoclonic spasms

•

en:myalgia (in some patients)

•

en:muscular atrophy

•

en:muscle weakness, limb-girdle, mild

•

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

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:muscle fiber immaturity

•

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

•

en:muscle biopsy shows neurogenic changes

•

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

•

en:lymphedema of lower extremity

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

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

•

en:mitochondrial complex iii deficiency (disorder)

•

en:myopathy, mild to severe

•

en:presynaptic defect at the neuromuscular junction

•

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

•

en:preserved heel standing

•

en:tremor of the upper limb

•

en:increased lysosomal glycogen

•

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

•

en:shoulder muscle hypoplasia

•

en:short and thickened z-discs

•

en:shortened open achr channel duration

•

en:reduced subcutaneous fatty tissue

•

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

•

en:premature exertional muscle weakness

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:positive staining for slow myosin heavy chain

•

en:poor musculature

•

en:painful muscle cramps

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:no staining for oxidative enzymes

•

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

•

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

•

en:neonatal edema (in some patients)

•

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

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:increased lipid

•

en:cox-depleted fibers

•

en:difficulty walking, running

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:decreased muscle bulk

•

en:decreased cytochrome c oxidase activity

•

en:decreased coenzyme q10

•

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

•

en:decreased activity of mitochondrial complexes i and iv

•

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

•

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

•

en:carpopedal spasm

•

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

•

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

•

en:atrophy of the thenar and hypothenar muscles

•

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

•

en:accelerated decay of the synaptic current

•

en:'sloping' shoulders due to muscle atrophy

•

en:type 2 fiber predominance

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:distal muscle weakness due to peripheral neuropathy

•

en:increased internal nuclei (in some patients)

•

en:fatty infiltration seen on muscle biopsy

•

en:increased glycogen

•

en:hypotonia (45%)

•

en:hypotonia, generalized (in some patients)

•

en:hypertonia late

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:gowers sign (in some patients)

•

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

•

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

•

en:fatty degeneration of muscle seen on mri

•

en:dystrophic changes occur later

•

en:exercise-induced muscle fatigue

•

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

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:emg shows fasciculations

•

en:electromyographic decrements in some muscles

•

en:edema of lower extremity

•

en:dystrophic features seen on muscle biopsy

•

en:dystrophic features

•

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

•

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

•

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

•

en:myositis (in some patients)

•

en:progressive loss of facial adipose tissue

•

en:primarily affects lower limbs

•

en:poor development of the postsynaptic membrane

•

en:peroneal muscle weakness

•

en:onset of weakness in hands and feet

•

en:nemaline rod formation

•

en:nemaline bodies

•

•

en:protein aggregates immunopositive for actin and desmin

•

en:muscle weakness, severe, axial and proximal predominance

•

en:muscle weakness, proximal greater than distal

•

en:muscle pain following exercise (in some patients)

•

en:muscle fiber necrosis

•

en:muscle atrophy restricted to the upper limb

•

en:muscles do not contract upon electrical stimulation

•

en:minimal muscle mass

•

en:minicores (in some)

•

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

•

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

•

en:merosin-positive biopsy

•

en:tendon tears

•

en:walking may be limited

•

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

•

en:vacuolar degeneration

•

en:upper limb weakness

•

en:upper limb muscle hypoplasia

•

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

•

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

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:subsarcolemmal mitochondrial aggregates

•

en:relative sparing of the tibialis anterior

•

en:subsarcolemmal lipofuscin-positive deposits

•

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

•

•

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

•

en:soft fleshy palms (50%)

•

en:shoulder girdle muscle atrophy

•

en:scapular muscle atrophy

•

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

•

en:mild variability in muscle fiber size

•

en:proximal amyotrophy

•

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

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:distal muscle weakness due to neuropathy

•

en:deposits immunoreactive to beta-amyloid protein

•

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

•

en:decreased muscle succinate dehydrogenase

•

en:decreased activity of complexes ii+iii

•

en:decreased achr

•

en:cytochrome-c oxidase deficiency

•

en:biopsy shows dystrophic changes

•

en:a subset of patients develop bilateral weakness

•

en:emg consistent with chronic neurogenic disorder

•

en:attacks may present during or after sleep

•

en:atrophic muscle fiber on biopsy

•

en:amyotrophy (1 patient)

•

en:acetazolamide may worsen symptoms

•

en:absence of myotonia in infancy (congenital form)

•

en:abnormal variation in fiber type seen on muscle biopsy

•

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

•

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

•

en:edema is present at birth and then slowly decreases

•

en:chronic weakness

•

en:increased connective tissue

•

en:loss of adipose tissue occurs around puberty

•

•

en:emg shows denervation

•

en:limb weakness, proximal followed by distal

•

en:independent walking may not be achieved

•

en:increased fatigue

•

en:increased connective tissue and fat

•

en:inclusions are tdp43-immunoreactive

•

en:hypotonia, infantile, severe

•

en:head drop due to neck muscle weakness

•

en:generalized muscle weakness, severe

•

en:foot dorsiflexor weakness

•

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

•

en:facial paresis

•

en:facial muscle atrophy of involved side

•

en:exercise-induced weakness

•

en:enlarged nuclei with central pallor

•

en:endomysial fibrosis

•

en:emg shows myotonic changes

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:myotonia is usually not seen

•

en:nemaline rods (in some patients)

•

en:nerve conduction studies normal

•

en:muscle biopsy shows chronic and active denervation

•

en:normal or increased facial adipose tissue

•

en:normal or increased truncal adipose tissue

•

en:muscle wasting in lower limbs

•

en:normal respiratory chain studies seen on muscle biopsy

•

en:muscle weakness, proximal, slowly progressive

•

en:muscle biopsy shows grouped atrophy

•

en:muscle pain after exercise

•

en:muscle hypertrophy (meb)

•

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

•

en:muscle biopsy shows ragged red fibers

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:muscle biopsy shows myopathic changes

•

en:muscle biopsy shows inflammation with t cells

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

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

•

en:percussion-induced muscle mounding (muscle rippling)

•

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

•

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

•

en:polymyositis

•

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

•

•

en:amyotrophy, distal, upper and lower limbs

•

en:adiposis on mri

•

en:weakness of neck muscles may occur later

•

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

•

en:triceps weakness

•

en:tetanus-like muscle contractions

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:stiffness (uncommon)

•

en:skeletal muscle shows dystrophic changes

•

en:progression to wheelchair in fourth decade

•

en:severe muscular hypotonia

•

en:secondary myopathic features

•

en:rupture of tendon

•

en:rimmed vacuoles with basophilic granular material

•

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

•

en:repetitive action potentials in response to single nerve stimulation

•

en:relative sparing of the rectus femoris

•

en:rare necrotic fibers

•

en:prominent involvement of the biceps brachii muscles

•

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

•

en:absence of some scapular muscles (less common)

•

en:mtdna deletions seen on muscle biopsy

•

en:congophilic amyloid material

•

en:decreased thiamine pyrophosphate

•

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

•

en:decreased muscle mitochondrial aconitase

•

en:decreased muscle mass (especially of limbs)

•

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

•

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

•

en:decreased caveolin-3 expression on muscle biopsy

•

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

•

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

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

en:difficulty rising from chair

•

en:calf muscle hypertrophy

•

en:axial muscle hyperextension, episodic

•

en:apoptotic nuclei

•

en:ankle reflex absent

•

•

en:absence of necrosis

•

en:abnormal z bands

•

en:abnormal sarcoplasmic reticulum elements

•

en:abnormally long mitochondria seen on muscle biopsy

•

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

•

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

•

en:mri shows increased connective tissue and fat

•

en:hypoplasia of cervical paravertebral muscles

•

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

•

en:mild atrophy of the proximal lower limbs

•

•

en:lower limb muscle atrophy

•

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:increased endo- and perimysial connective tissue

•

en:inability to run

•

en:hypotrophic type 2 muscle fibers

•

en:heterotopic bone formation in subcutaneous fat

•

en:distal limb muscle weakness (less common)

•

en:group fiber atrophy (in some patients)

•

en:glycogen depletion in skeletal muscle

•

en:generalized weakness (adult-onset)

•

•

en:fiber-type variability

•

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

•

en:enteroviral dermatomyositis syndrome

•

en:edema of dorsum of hands and feet

•

en:dystrophic changes seen on muscle biopsy

•

en:angulated atrophic fibers

•

en:areflexia due to muscle weakness

•

en:ankle edema (finding)

•

en:muscle weakness lower limb

•

en:pectoralis hypoplasia

•

en:normal muscle fiber (hcs)

•

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

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles)

•

en:myotonia seen on emg

•

en:myopathy, mild

•

en:myalgia with febrile episodes (rare)

•

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

•

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

•

en:postexercise cmap amplitude facilitation

•

en:muscle hypertrophy

•

en:muscle hyperirritability

•

en:muscle fatigability

•

en:muscle cramps, painful, recurrent

•

en:muscle biopsy shows neurogenic atrophy

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle biopsy shows loss of type 2a fibers

•

en:muscle biopsy shows increased variation in fiber size

•

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

•

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

•

en:predominantly lower limb lymphedema

•

en:muscle atrophy (1 patient)

•

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

•

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

•

en:weakness and wasting of the lower limbs

•

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

•

en:virtually no active movement at birth (wws)

•

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

•

en:atrophic calf muscles

•

en:toe and foot dorsiflexor weakness

•

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

•

en:tenderness of lower extremities

•

en:slim, muscular build (in some patients)

•

en:prolonged endplate potentials

•

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

•

en:scapuloperoneal amyotrophy

•

en:rupture of muscle

•

en:rhabdomyolysis (in some patients)

•

en:replacement of myofibers with connective tissue

•

en:red-ragged fibers (2p21del)

•

en:ragged-red fibers on muscle biopsy

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:prominent involvement of the quadriceps femoris muscles

•

en:muscle biopsy shows atrophic fibers

•

en:umbilical cord bleeding

•

en:motor clumsiness

•

en:decreased mitochondrial complex iii activity seen on muscle biopsy

•

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

•

en:distal muscle weakness

•

en:distal muscle atrophy due to denervation

•

en:distal muscle atrophy (1 patient)

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

en:distal limb muscle weakness, lower more than upper

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:decreased sarcolemmal immunostaining for ptrf

•

en:decreased mitochondrial respiratory chain complex activity

•

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

•

en:easy bruisability of lower extremities

•

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

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:cox-deficient fibers

•

en:congophilic inclusions

•

en:chronic fatigable muscles

•

en:attacks relieved by potassium administration

•

en:atrophy of the lower leg muscles

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:mitochondrial dna deletion (1 patient)

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:calf hypertrophy (uncommon)

•

en:edema, subcutaneous, generalized

•

en:hypotonia (untreated hypothyroidism)

•

en:edema (hands and feet)

•

en:mild endplate myopathy

•

en:lymphedema of the hands (in some patients)

•

en:lipid storage, mainly in type i fibers

•

en:increased variation in fiber size seen on muscle biopsy

•

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

•

en:increased focal mitochondrial density

•

en:inability to sit or hold head up

•

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:hypoplasia of muscle

•

en:fasciculations (in some patients)

•

en:emg shows neurogenic changes consistent with denervation

•

en:histochemically normal type-ii muscle fibers

•

en:emg shows reduction of voluntary recruitment

•

en:mild muscular hypotonia

•

en:frontalis muscle weakness

•

en:hematomas, recurrent large subcutaneous

•

en:generalized amyoplasia

•

•

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

•

en:fibromyalgia

•

en:generalized neonatal hypotonia

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

en:hypothenar muscle atrophy

•

en:hypotonia (cvs+)

•

en:hypotonia from birth to age 12

•

en:increased fiber size variability

•

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

•

en:limb-girdle muscle weakness

•

en:involves upper and lower proximal muscles

•

en:muscle aches, cramps

•

en:lipid droplets seen on muscle biopsy

•

en:loss of antigravity strength

•

en:lower limbs more affected than upper limbs

•

en:lymphedema, dorsa of feet

•

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

•

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

•

en:evidence of lymphatic rerouting

•

en:low-amplitude compound muscle action potential (cmap)

•

en:decreased activity of respiratory complex ii+iii

•

en:eosinophilic inclusions

•

en:cranial muscles spared

•

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

•

en:angular atrophic fibers

•

en:axial hypotonia (in some patients)

•

en:cellulitis in lower limbs, recurrent

•

en:centralized nuclei may be seen

•

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

•

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

•

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

•

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

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:decreased exercise tolerance

•

en:decreased muscle action potential after warming affected muscle

•

en:degenerative changes with increased connective tissue

•

en:distal amyotrophy

•

en:distal atrophy of the legs

•

en:distal muscle weakness, upper and lower limbs

•

en:distal muscle weakness and atrophy

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:reduced ankle dorsiflexion

•

en:muscle biopsy shows fiber type disproportion

•

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

•

en:sarcoplasmic inclusions

•

en:severe form shows absence of spontaneous activity at birth

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:subcutaneous lipomatous tissue

•

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

•

en:type 1 fiber atrophy

•

en:vacuolar myopathy

•

en:floppy infant

•

en:rectus fascia separation

•

en:myosin storage myopathy (in some patients)

•

en:gait disturbance

•

élargissement du polygone de sustentation

•

en:general paresis

•

en:paralytic dementia

•

en:almost complete absence of large diameter fibers

•

•

syndrome de dépérissement

•

en:sarcomere disappearance seen on muscle biopsy

•

en:prolonged achr channel opening episodes

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:myopathic changes seen on biopsy

•

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

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

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

•

en:muscle weakness, upper and lower limbs

•

en:muscle weakness (1 patient)

•

en:muscle weakness (cvs+)

•

en:muscle weakness due to peripheral neuropathy

•

en:muscle weakness is not a feature

•

en:myopathic features seen on emg

•

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

•

en:myopathy seen on emg

•

en:necrosis and degeneration seen on muscle biopsy

•

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

•

en:necrotic and regenerating muscle fibers

•

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

•

en:nonspecific muscle fiber atrophy

•

en:no myofibrillar abnormalities or protein aggregation

•

•

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7120331 • caches: c1=6 c2=1002 c3=1

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]

A propos

Champs masqués

1.6 s