Diko : en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

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Langue:anglais

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umls:C1836442

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1000

en:tubular aggregates seen on muscle biopsy

•

en:no facial muscle involvement

•

en:retroperitoneal fibrosis (rare)

•

en:distal amyotrophy (hands and feet)

•

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

•

en:facial muscle atrophy of involved side

•

en:muscle shows lipid accumulation

•

en:increased fibrosis (family a)

•

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

•

en:leg edema

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:muscle biopsy shows dystrophic pattern

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:decremental compound muscle action potential on repetitive stimulation

•

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

•

en:chronic denervation/reinnervation seen on emg

•

en:lack of integrin alpha-7 staining

•

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

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:muscle pain (less common)

•

en:gluteal hypoplasia

•

en:facial muscle atrophy

•

en:slowly progressive limb-girdle myopathy

•

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

•

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

•

en:increased lysosomal glycogen

•

en:neonatal edema (in some patients)

•

en:myotonia is usually not seen

•

en:muscle biopsy shows myofibrillar disruption

•

en:motor delay

•

en:proximal limb muscle weakness (occurs later)

•

en:cellulitis due to immunodeficiency

•

en:decreased mitochondria

•

en:fibromyalgia

•

en:generalized muscle contractions, episodic

•

en:immunoreactivity for z-disk proteins

•

en:mild muscle atrophy in forearm muscles

•

en:normal or increased facial and neck adipose tissue

•

en:attacks precipitated by rest after exercise

•

en:frequent falls

•

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

•

en:bilateral foot drop

•

en:multi-core congenital myopathy

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle hypertrophy may occur

•

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

•

en:paradoxical myotonia (myotonia increases with exercise)

•

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

•

en:small atrophic muscle fibers

•

en:quadriceps weakness

•

en:dystrophic changes occur later

•

en:lipid droplets seen on muscle biopsy

•

en:neurogenic abnormalities seen on emg

•

en:normal muscle fiber (hcs)

•

en:proximal muscle involvement may occur

•

en:hypotonia, infantile, severe

•

en:absence of myotonia in infancy (congenital form)

•

en:prolonged achr channel opening episodes

•

en:no staining for oxidative enzymes

•

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

•

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

•

en:congenital absence of gluteal muscles

•

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

•

en:calf muscle enlargement

•

en:absence of laminin alpha-2 chain in muscle

•

en:calf pseudohypertrophy rare

•

en:decreased activity of complex i and complex iv

•

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

•

en:muscle cramps affect the upper and lower limbs

•

en:myalgia with febrile episodes (rare)

•

en:symmetrical muscle wasting

•

en:biopsy shows myopathy without vacuoles

•

en:hemihypertrophy of right arm and leg (rare)

•

en:muscle pain (in some patients)

•

en:progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1

•

en:painful swelling in fasciae

•

en:muscle weakness following prolonged exercise

•

en:type 2 fiber hypertrophy

•

en:muscle biopsy shows grouped atrophy

•

en:muscle atrophy, mild, more proximal than distal

•

en:mild muscle weakness

•

en:limb weakness and atrophy

•

en:distal lower limb amyotrophy

•

en:repetitive response to single nerve stimulation

•

en:distal limb muscle weakness occurs later

•

en:distal muscle atrophy, predominantly affecting the lower limbs

•

en:fibrillation

•

en:increased fatty infiltration

•

en:muscular appearance

•

en:myositis (in some patients)

•

en:quadriceps aplasia

•

en:congenital myopathy (in one patient)

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:decreased or absent ankle reflexes

•

en:distal limb muscle weakness and atrophy

•

en:hypotonia (patients a and c)

•

en:muscle biopsy shows myopathic changes

•

en:muscle weakness, episodic

•

en:muscle weakness, proximal and distal

•

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

•

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

•

en:edema at birth

•

en:increased variation in fiber size seen on muscle biopsy

•

en:lipodystrophy

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:quadriceps atrophy (later onset)

•

en:anterior tibial muscles first involved

•

en:decreased muscle mass (especially in lower limbs)

•

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

•

en:heterotopic bone formation in subcutaneous fat

•

en:increased fatty and connective tissue in skeletal muscle

•

en:low maximum workload on exercise testing

•

en:muscle weakness, mainly proximal

•

en:myofibroma (in 1 patient)

•

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

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:z-disks with abnormal homogeneous material

•

en:muscle biopsy shows type i fiber predominance

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:exercise intolerance (less common)

•

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

•

en:increased focal mitochondrial density

•

en:interosseus muscles involved

•

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

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:limb muscular atrophy

•

en:muscle mitochondria normal by histochemical analysis

•

en:increased muscle tone at birth

•

en:normal or increased abdominal adipose tissue

•

en:muscle wasting in lower limbs

•

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

•

en:decreased hand grip strength

•

en:z-line streaming see on electron microscopy

•

en:weakness of all intrinsic hand muscles (later)

•

en:muscle weakness, severe, proximal and distal

•

en:muscle biopsy shows abnormal mitochondria

•

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

•

en:muscle fiber splitting

•

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

•

en:muscle biopsy shows myofibrillar myopathy

•

en:muscle biopsy shows fiber type disproportion

•

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

•

en:muscle biopsy shows dystrophic changes

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:muscle biopsy shows core-like regions devoid of oxidative activity

•

en:minipolymyoclonus

•

en:muscle atrophy affecting the upper back and neck muscles

•

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

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:muscular stiffness

•

en:minicores or core-like regions may be present

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

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

•

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

•

en:loss of ambulation (in some patients)

•

en:limb weakness, proximal followed by distal

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:muscle weakness is not a feature

•

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

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

en:primary myopathic changes seen on emg

•

en:smooth muscle may also become involved

•

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

•

en:secondary loss of sarcolemmal caveolin-3

•

en:rhabdomyolysis with exercise (in older patients)

•

en:relatively preserved limb strength

•

en:reduced muscle tone but normal power

•

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

•

en:proximal muscle weakness in upper limbs

•

en:proximal muscle weakness, mild

•

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

•

en:proximal lower limb amyotrophy

•

en:peroneal muscle weakness

•

en:myopathic features seen on emg

•

en:pelvic girdle weakness and atrophy

•

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

•

en:painful swelling in aponeuroses

•

en:no rods

•

en:no muscle fiber necrosis

•

en:nonspecific muscle fiber atrophy

•

en:neuropathic or myopathic changes seen on emg

•

en:nemaline myopathy (in 1 reported male)

•

en:myotonia seen on emg

•

en:inguinal hernia

•

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

•

en:limb-girdle muscle weakness (2 families)

•

en:increased endomysial connective tissue around muscle fibers

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:decreased adipose tissue around neck

•

en:delayed motor development (cvs+)

•

en:degenerating fibers

•

en:deep finger muscle weakness

•

en:decremental muscle response to repetitive nerve stimulation

•

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

•

en:decreased postsynaptic length

•

en:decreased mitochondrial respiratory activities (in some patients)

•

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

•

en:decreased cytochrome c oxidase activity

•

en:decreased atp production

•

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

•

en:difficulty running and jumping

•

en:cervical muscle weakness

•

en:attacks of weakness

•

en:atrophy of the thenar and hypothenar muscles

•

en:atrophy, neurogenic muscular

•

en:apoptotic nuclei

•

en:affected muscles show atrophy

•

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

•

en:absence of collagen vi immunostaining

•

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

•

en:abnormally long mitochondria seen on muscle biopsy

•

en:thenar amyotrophy (rare)

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:difficulty walking, running

•

en:increased lipid droplets and abnormal mitochondria

•

en:generalized neonatal hypotonia

•

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

•

en:increased falls

•

en:increased echo intensity in affected muscles

•

en:hypotonia, truncal and appendicular

•

en:hypotonia, profound

•

en:hypotonia, generalized, severe

•

en:hypoactive gag reflex

•

en:hematomas, recurrent large subcutaneous

•

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

•

en:gowers sign

•

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

•

en:generalized hypotonia

•

en:disorganization of the neuromuscular junction

•

en:forearm muscle weakness

•

en:filamentous inclusions in muscle fibers

•

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

•

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

•

en:emg shows myopathic and neurogenic changes

•

en:emg may show neurogenic changes

•

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

•

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

•

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

•

en:disruption of the m-line

•

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

•

en:symptoms may be induced by heat

•

en:centralized myonuclei

•

en:thenar muscle atrophy

•

en:muscle cramps may affect jaw muscles

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:necrotic changes (finding)

•

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

•

en:myopathy with abnormal lipid metabolism

•

en:muscle weakness is predominantly of extremities and tongue

•

en:muscle wasting (especially legs and arms)

•

en:muscle wasting, progressive

•

en:muscle hypertonia

•

en:muscle hematoma

•

en:muscle fatigue

•

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

•

en:neurogenic changes seen on emg and biopsy

•

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

•

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

•

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

•

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

•

en:muscle atrophy, limb-girdle and proximal

•

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

•

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

•

en:mitochondrial dna depletion, severe

•

en:marked lack of adipose tissue

•

en:lymphangiectasia

•

en:loss of subcutaneous fat

•

en:neonatal hypotonia

•

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

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

•

en:redundancy of basal lamina with accumulated debris

•

en:weakness worsened by activity

•

en:virtually no active movement at birth (wws)

•

en:variable fiber size

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:thickened subcutaneous tissue

•

en:soft tissue vascular malformations

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

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

•

en:shoulder muscle weakness

•

en:severe form shows absence of spontaneous activity at birth

•

en:sarcomere disappearance seen on muscle biopsy

•

en:reduced muscle mass

•

en:polyglucosan accumulation

•

en:reduced ankle dorsiflexion

•

en:pyruvate oxidation defect

•

en:proximal weakness

•

en:proximal muscle weakness (85% of patients)

•

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

•

en:proximal muscle atrophy (in some patients)

•

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

•

en:progressive loss of facial adipose tissue

•

en:predominantly lower limb lymphedema

•

en:postexercise cmap amplitude facilitation

•

en:poor head control

•

en:lack of facial subcutaneous fat

•

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

•

en:increased subcutaneous truncal adipose tissue

•

en:atrophy, mild (in some cases)

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:decreased cytochrome c oxidase staining

•

en:decreased coenzyme q10 content

•

en:decreased caveolae in muscle tissue

•

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

•

en:decreased activity of complexes ii+iii

•

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

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:a subset of patients develop bilateral weakness

•

en:atrophy of type 1 and type 2 fibers

•

en:aggregates contain granular electron-dense material

•

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

•

en:absence of merosin in muscle

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:abnormalities in myofibril organization

•

en:wasting of calf muscles (rare)

•

en:waddling gait

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

en:upper and/or lower limbs may be affected

•

en:ubiquinone decreased

•

en:tubular aggregates seen on biopsy

•

en:increased mitochondria with abnormal cristae

•

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

•

en:decremental cmap response to repetitive nerve stimulation

•

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

•

en:depletion of mitochondrial dna

•

en:focal loss of cross striations seen on muscle biopsy

•

en:hypoplasia of cervical paravertebral muscles

•

en:hypotonia at birth

•

en:hyaline plaques with absent oxidative activity

•

en:humeroperoneal weakness and atrophy

•

en:hang weakness

•

en:glycogen depletion in skeletal muscle

•

en:generalized weakness (adult-onset)

•

en:distal muscle atrophy, affecting the lower limbs

•

en:gait, drop foot

•

en:foot-drop

•

en:generalized muscular appearance from birth

•

en:fibrous dysplasia (rare)

•

en:emg shows fasciculations

•

en:distal muscle atrophy (1 patient)

•

en:fatty infiltration seen on muscle biopsy

•

en:edema is present at birth and then slowly decreases

•

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

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:emg shows fibrillation potentials

•

en:emg shows polyphasic continuous motor unit discharges

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:exercise intolerance (patient a)

•

en:fatty degeneration of muscle seen on mri

•

en:normal lamp2 staining (309060)

•

en:nonspecific myopathy seen on biopsy

•

en:necrosis and degeneration seen on muscle biopsy

•

en:myotonia is present in majority of cases

•

en:myopathy, nonprogressive

•

en:myopathy, mild

•

en:myofibrillar disintegration

•

en:muscle weakness due to peripheral neuropathy

•

en:muscle weakness associated with fasting or infection

•

en:many fibers with internal nuclei

•

en:muscle weakness (type i)

•

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

•

en:muscle weakness, proximal, limb-girdle

•

en:muscle weakness, distal more than proximal

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle biopsy shows lipid droplets

•

en:muscle biopsy shows centralized nuclei

•

en:muscle biopsy shows atrophic fibers

•

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

•

en:normal or increased adipose tissue around the neck

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:pena-shokeir syndrome type i

•

en:small round skeletal muscle fibers

•

en:type 2 muscle fiber predominance

•

en:loss of antigravity strength

•

en:tortuous lymphatic tracts

•

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

•

en:superior rectus atrophy

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

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

•

en:structurally abnormal mitochondria

•

en:stiffness (uncommon)

•

en:sparing of anterior tibialis muscle

•

en:skeletal myopathy

•

en:poor exercise tolerance

•

en:shoulder muscle hypoplasia

•

en:shortening of various muscle-tendon groups in feet

•

en:rectus abdominis muscle separation

•

en:ragged red fibers seen on biopsy

•

en:proximal muscle weakness (in some patients)

•

en:prolonged miniature endplate currents

•

en:progressive interictal weakness is common

•

en:presynaptic defect at the neuromuscular junction

•

en:postsynaptic abnormalities

•

en:positive staining for atpase activity at ph of 4.3

•

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

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:lipodystrophy (in some patients)

•

en:biceps aplasia

•

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

•

en:decreased activities of complexes i and iv

•

en:decreased achr at the endplate

•

en:cox-depleted fibers

•

en:congophilic staining

•

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

•

en:centrally located nuclei seen on muscle biopsy

•

en:calcific tendinitis

•

en:bilateral facial weakness (congenital form)

•

en:axial muscle hyperextension, episodic

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

•

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

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:atrophic fibers

•

en:ankle clonus

•

en:amyotrophy affects c5 to t1 myotomes

•

en:acquired partial lipodystrophy

•

en:abnormal fiber size variation

•

en:abnormal fatigue

•

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

•

en:decreased endplate potential and amplitudes

•

en:decreased muscle mass (especially of limbs)

•

en:lipoatrophy

•

en:generalized muscle weakness, severe

•

en:lipid accumulation in muscle tissue

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:isolated necrotic fibers

•

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

•

en:increased fiber size variability

•

en:increased connective tissue and fat

•

en:inclusions are tdp43-immunoreactive

•

en:hypotonia, severe, persistent

•

en:hypotonia, neonatal (in some patients)

•

en:gowers sign (patient a)

•

en:gait unsteady

•

en:degrading mitochondria

•

en:focal loss of cross- striations

•

en:fatty replacement

•

en:fatigue

•

en:exertional fatigue

•

en:emg shows neurogenic changes consistent with denervation

•

en:dysphonia

•

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

•

en:distal muscle wasting due to peripheral neuropathy

•

en:distal limb muscle atrophy (less common)

•

en:difficulty raising arms

•

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

•

en:lymphedema of lower limbs (in some patients)

•

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

•

en:muscle weakness, variable

•

en:onset of lymphedema around puberty

•

en:nuclear clumps

•

en:normal neonatal period may occur before weakness is apparent

•

en:nonspecific myopathy

•

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

•

en:myalgia (in some patients)

•

en:muscular atrophy

•

en:muscle weakness and atrophy, proximal

•

en:muscle weakness and atrophy, distal

•

en:muscle weakness, primarily proximal

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:muscle spasticity

•

en:muscle fiber immaturity

•

en:muscle cramp

•

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

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:mitochondrial proliferation

•

en:mitochondrial complex iii deficiency (disorder)

•

en:minicores extend full fiber diameter

•

en:mildly decreased cytochrome c oxidase activity

•

en:pelvic girdle muscle atrophy

•

en:pharyngeal muscle weakness

•

en:lymphedema of the extremities

•

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

•

en:variation in fibrodiameter seen on muscle biopsy

•

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

•

en:variability in fiber size

•

en:umbilical hernia

•

en:umbilical cord bleeding

•

en:type 1 fiber atrophy

•

en:toe and foot dorsiflexor weakness

•

en:thick palmar fascia

•

en:tetany

•

en:tenderness of lower extremities

•

en:small type ii fibers

•

en:poor muscle mass

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:shoulder weakness

•

en:ring fibers

•

en:rhabdomyolysis, episodic

•

en:replacement of myofibers with connective tissue

•

en:relative muscle weakness, especially in pelvic girdle

•

en:reduced muscle tone

•

en:rectus fascia separation

•

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

•

en:proximal amyotrophy

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:upper limb weakness

•

en:loss of achr

•

en:broad-based gait

•

en:difficulty walking, running, climbing stairs

•

en:degenerating junctional folds

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:decremental response to repetitive nerve stimulation

•

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

•

en:decreased collagen vi

•

en:cranial muscles spared

•

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

•

en:complex v deficiency

•

en:casq1-immunopositive inclusions

•

en:atrophy of shins

•

en:distal amyotrophy

•

en:atrophy of anterior compartment tibial muscles

•

en:atrophic calf muscles

•

en:arm/shoulder muscle hypoplasia

•

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

•

en:amyotrophy (1 patient)

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:absence of pectoralis minor muscle

•

en:abnormal aggregates of desmin and filamin c

•

en:walking may be limited

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:disorganization of the myofibrillar pattern

•

en:absence of gamma-sarcoglycan protein

•

en:distal muscle atrophy due to neuropathy

•

en:generalized muscle hypertrophy

•

en:increased glycogen

•

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

•

en:increased intramuscular fat

•

en:hypotrophy of type 1 fibers

•

en:hypotonia, generalized (in some patients)

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:hypertonia at birth

•

en:hematoma

•

en:hamstring and quadriceps muscles mildly affected

•

en:group fiber atrophy (in some patients)

•

en:inclusion body myopathy

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:dystrophic changes seen on skeletal muscle biopsy

•

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

•

en:distal muscle weakness

•

en:dystrophic changes may be present

•

en:distal muscle weakness occurs later

•

en:edema (hands and feet)

•

en:emg shows increased insertion activity and fibrillation

•

en:facial diplegia

•

en:fiber-type variability

•

en:distal muscle weakness, lower legs

•

en:muscle weakness, lower limbs (patient a)

•

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

•

en:muscle weakness

•

en:muscle hypertrophy of the lower extremities

•

en:muscle fiber necrosis

•

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

•

en:muscle biopsy shows no dystrophic changes

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:muscle biopsy shows myofibrillar changes

•

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

•

en:muscle atrophy (type i)

•

en:muscle atrophy, primarily in the legs

•

en:mri may show cervical spinal cord atrophy

•

en:mitochondrial dna deletion (1 patient)

•

en:merosin-positive biopsy

•

en:marked loss of subcutaneous fat in the limbs, face, and sometimes chest

•

en:loss of subcutaneous adipose tissue in limbs

•

en:levator palpebrae superioris atrophy

•

en:leg cramps may occur with exercise

•

en:internal nuclei

•

en:increased muscle tone (early in life)

•

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

•

en:reduced muscle strength (in some patients)

•

en:muscle weakness, proximal more than distal

•

en:scattered necrotic fibers

•

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

•

en:increased internal nuclei in skeletal muscle fibers

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:sparing of the anterior tibial compartment

•

en:some patients never achieve ambulation

•

en:small or absent axon terminals

•

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

•

en:shoulder muscle weakness (in some patients)

•

en:severe disability within 20 years of onset

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:neck and proximal limb muscle myopathy

•

en:relative sparing of the rectus femoris

•

en:reduced subcutaneous fatty tissue

•

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

•

en:predominance of oxidative fibers

•

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

•

en:onset of weakness in hands and feet

•

en:no staining for periodic acid schiff (pas)

•

en:nemaline rods (rare)

•

en:neck muscle hypoplasia

•

en:increased intraabdominal fat

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:hypotonia from birth to age 12

•

en:bulbar weakness

•

en:decreased activity of mitochondrial complexes i and iv

•

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

•

en:cytochrome c oxidase-negative fibers

•

en:cores of myofibrillar disruption with associated absence of mitochondria

•

en:congophilic eosinophilic inclusions

•

en:cold sensitivity has been reported

•

en:clumsiness

•

en:carpopedal spasm

•

en:calf atrophy (later onset)

•

en:biopsy muscle normal

•

en:decreased lipoic acid

•

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

•

en:atrophy of the intrinsic foot and hand muscles

•

en:angulated atrophic muscle fibers

•

en:amyotrophy, neurogenic

•

en:alimentary edema

•

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

•

en:accelerated decay of the synaptic current

•

en:abnormal iron deposition in mitochondria

•

en:tubular aggregates in muscle fibers may occur

•

en:decreased glycosylation of alpha-dystroglycan

•

en:decreased numbers of achr seen on muscle biopsy

•

en:hypotonia (cvs+)

•

en:fatty deposition

•

en:hypothenar muscle atrophy

•

en:hypertonicity (uncommon)

•

en:hand and foot weakness

•

en:glycogen deficiency in muscle fibers

•

en:generalized amyoplasia

•

en:frontalis muscle weakness

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

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

•

en:fat pad between achilles tendon and medial malleolus

•

en:exercise-induced weakness

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:enlarged nuclei with central pallor

•

en:endomysial fibrosis

•

en:emg shows myopathic pattern

•

en:emg shows myopathic features

•

en:emg - repetitive muscle discharges

•

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

•

en:easy fatigue

•

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

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:tendinous and tuberous xanthoma

•

en:decreased expression of the vdac1 protein

•

en:upper limb involvement occurs later or not at all

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:myopathic features seen on biopsy

•

en:muscular hypotonia of the trunk

•

en:muscle weakness may affect upper limbs

•

en:muscle weakness, proximal, slowly progressive

•

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

•

en:muscle stiffness or aching

•

en:muscle hypotonia

•

en:muscle hypertrophy (meb)

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle biopsy shows small rounded fibers

•

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

•

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

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:muscles become hard and tender during exercise

•

en:minimal subcutaneous fat

•

en:loss of ambulation between third and sixth decade

•

en:loss of ambulation

•

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

•

en:jitter

•

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

•

en:myopathic pattern seen on emg

•

en:necrosis

•

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

•

en:proximal muscle weakness (occasional)

•

en:vacuolar myopathy may occur

•

en:weakness

•

en:variation in skeletal muscle fiber diameter

•

en:thenar eminence hypoplasia

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:secondary loss of merosin and desmin

•

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

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:proximal muscle weakness

•

en:nerve conduction studies normal

•

en:proximal limb muscle weakness initially

•

en:prominent involvement of the quadriceps femoris muscles

•

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

•

en:poor muscle build

•

en:panniculitis

•

en:no ragged-red fibers

•

en:no dystrophic changes

•

en:normal or increased facial adipose tissue

•

en:normal mitochondrial morphology (1 patient)

•

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

•

en:increased numbers of type 1 fibers

•

en:tubular aggregates (in some patients)

•

en:increased internal nuclei (in some patients)

•

en:atrophy of upper girdle muscles

•

en:degenerating nerve terminals

•

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

•

en:decreased muscle mass

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

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

•

en:cox-negative fibers

•

en:congophilic inclusions

•

en:coenzyme q10 deficiency

•

en:changes in sarcoplasmic reticulum and t-tubules

•

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

•

en:denuded postsynaptic regions

•

en:asymmetric muscle involvement

•

en:adhalin deficiency seen on muscle biopsy

•

en:absence of telethonin protein

•

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

•

en:abnormal variation in fiber type seen on muscle biopsy

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:abnormal distribution of subcutaneous fat

•

en:weakness of neck muscles may occur later

•

en:vacuoles in the myofiber cytoplasm

•

en:increased endomysial fibrosis

•

en:delayed ambulation

•

en:z-band streaming

•

en:deposits immunoreactive to beta-amyloid protein

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:difficulty running

•

en:hypoplasia of the hand muscles (29%)

•

en:hypotonia (1 patient)

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:flaccid neck

•

en:fibrillations in affected muscles

•

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

•

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

•

en:enteroviral dermatomyositis syndrome

•

en:gowers sign (in some patients)

•

en:enlarged mitochondria

•

en:edema

•

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

•

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

•

en:easy bruisability of lower extremities

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:electromyogram normal

•

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

•

en:emg shows myopathy

•

en:emg shows neurogenic changes

•

en:distal lower limb muscle weakness

•

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

•

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

•

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

•

en:myopathic pattern on emg

•

en:muscular weakness, limb-girdle (patient a)

•

en:muscle weakness (1 patient)

•

en:muscle weakness, upper and lower limbs

•

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

•

en:muscle mri shows fatty infiltration

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:muscle fibers appear as fetal myotubules

•

en:muscle cramps, painful, recurrent

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle atrophy in the limbs

•

en:muscle atrophy, severe

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:muscle atrophy, mild

•

en:mtdna depletion seen on muscle biopsy

•

en:mri shows fatty replacement

•

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

•

en:normal or decreased facial and neck adipose tissue

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:normal phosphorylase kinase activity in muscle

•

en:type 1 muscle fiber predominance

•

en:ankle edema (finding)

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:angulated atrophic fibers

•

en:amyotrophy, distal, upper and lower limbs

•

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

•

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

•

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

•

en:type 2 fiber predominance

•

en:tubular aggregates mainly in type 1 fibers

•

en:phagocytic vacuoles with degraded membranous material

•

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

•

en:short and thickened z-discs

•

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

•

en:rhabdomyolysis

•

en:rectus medial atrophy

•

en:rare necrotic fibers

•

en:proximal and distal muscle atrophy

•

en:poor musculature

•

en:poor head control in infancy

•

en:lower limb atrophy

•

en:distal muscle weakness, affecting the lower limbs

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:decreased complex i activity (rare)

•

en:difficulty rising from chair

•

en:denervation of skeletal muscles

•

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

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

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

•

en:decreased muscle density on imaging

•

en:decreased mtdna

•

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

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:distal muscle atrophy, lower legs

•

en:decreased achilles reflex

•

en:cox-negative fibers seen on muscle biopsy

•

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

•

en:cores extend along length of muscle fiber

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:calf muscle hypertrophy

•

en:attacks usually decrease or disappear after age 40 years

•

en:abdominal wall muscle weakness (later onset)

•

en:autophagic rimmed vacuoles

•

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

•

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

•

en:loss of gluteal adipose tissue

•

en:hypotrophy of the small hand muscles

•

en:loss of adipose tissue occurs around puberty

•

en:lipoma

•

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

•

en:large hypertrophied fibers

•

en:independent walking may not be achieved

•

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

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:increased muscle tone in the lower limbs

•

en:increased adipose fibrosis

•

en:hypoplasia of muscle

•

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

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:hip girdle muscle atrophy

•

en:hip abductor weakness and atrophy

•

en:head drop due to neck muscle weakness

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:fiber type variation

•

en:exercise-induced muscle stiffness

•

en:emg may showed myotonic discharges

•

en:dystrophic features seen on muscle biopsy

•

en:areflexia due to muscle weakness

•

en:distal atrophy of the legs

•

en:benign soft tissue developmental anomalies

•

en:myotonic discharges

•

en:poor development of the postsynaptic membrane

•

en:peroneal muscle atrophy

•

en:pectoralis major hypoplasia

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:neurogenic atrophy

•

en:nemaline rods may be observed

•

en:myxedematous appearance

•

en:myopathic changes early in disease seen on emg

•

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

•

en:myofibrillar myopathy

•

en:myofibrillar disorganization

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:muscle weakness, limb-girdle, mild

•

en:muscle weakness, congenital

•

en:muscle cramps at rest

•

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

•

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

•

en:potassium sensitivity has been reported

•

en:prolonged endplate potentials

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:wrist swelling

•

en:wide variation in fiber size

•

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

•

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

•

en:weakness and wasting of the lower limbs

•

en:usually no myopathic changes on biopsy

•

en:type 2 muscle fiber atrophy

•

en:triceps aplasia

•

en:superficial rerouting of lymph through the skin

•

en:biopsy shows dystrophic changes

•

en:protein aggregates immunopositive for actin and desmin

•

en:subcutaneous edema

•

en:stiffness

•

en:soft fleshy palms (50%)

•

en:small rounded fibers

•

en:slim, muscular build (in some patients)

•

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

•

en:repetitive response to single nerve stimulus

•

en:ragged-red fibers on muscle biopsy

•

en:proximal myopathy

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

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

•

en:muscle biopsy shows chronic and active denervation

•

en:difficulty in toe walking

•

en:fiber type variation seen on biopsy

•

en:fiber type grouping

•

en:fat pad anterior to malleolus

•

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

•

en:facial muscle weakness and atrophy, progressive

•

en:exercise capacity decreased

•

en:dystrophic changes on biopsy

•

en:distal myopathy (in 1 family)

•

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

•

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

•

en:decreased numbers of achr

•

en:decreased muscle mass in the thighs

•

en:decreased mitochondrial complex v activity

•

en:decreased activity of mitochondrial complex iii

•

en:cytochrome-c oxidase deficiency

•

en:congenital muscular dystrophy (disorder)

•

en:cellulitis in lower limbs, recurrent

•

en:calf muscle weakness

•

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

•

en:floppy infant syndrome

•

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

•

en:gastrocnemius and soleus muscles most affected

•

en:lipomas or lipomatous masses (most cases)

•

en:muscle atrophy (in some patients)

•

en:hyporeflexia or areflexia

•

en:muscle amyotrophy

•

en:muscle aches, intermittent

•

en:mitochondria show paracrystalline inclusions

•

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

•

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

•

en:loss of facial adipose tissue

•

en:loose connective tissue

•

en:mtdna deletions seen on muscle biopsy

•

en:lipid droplet accumulation

•

en:hypotonia, neonatal, severe (hcs)

•

en:inflammatory cells absent

•

en:infantile axial hypotonia

•

en:increased muscle glycogen content

•

en:increased fibrosis (in some patients)

•

en:hypotonia, mild

•

en:increased fat and fibrous tissue

•

en:increased connective tissue (in some patients)

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:lower limb muscle hypotrophy

•

en:mild weakness

•

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

•

en:mitochondrial dna deletions (in some patients)

•

en:mri shows fatty infiltration of affected muscles

•

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

•

en:muscle biopsy shows inflammation with t cells

•

en:muscle atrophy appears later in disease course

•

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

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle biopsy shows lipid deposition

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

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

•

en:loss of sarcomeric striations

•

en:muscle cramps (also seen in some heterozygotes)

•

en:lower and upper limbs affected

•

en:hypoplasia of latissimus dorsi muscle

•

en:lipoatrophy of trunk

•

en:generalized muscle weakness

•

en:muscle weakness, severe, diffuse

•

en:dystrophic skeletal muscle seen on biopsy

•

en:easy fatigability with exercise

•

en:exercise-induced muscle fatigue

•

en:exertional leg pain

•

en:finger and wrist extensor weakness

•

en:hypotonia, axial, severe

•

en:lipoatrophy, generalized

•

en:inability to stand on tiptoes

•

en:increased endo- and perimysial connective tissue

•

en:increased internal nuclei seen on muscle biopsy

•

en:increased lipid

•

en:increased variation in muscle fiber diameter

•

en:internal nuclei (in some patients)

•

en:muscle fibers may contain abnormal polysaccharide

•

en:skeletal muscle damage

•

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

•

en:truncal hypotonia (family a)

•

en:shortening of various muscle-tendon groups in legs

•

en:some patients become wheelchair-dependent

•

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

•

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

•

en:tendon tears

•

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

•

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

•

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

•

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

•

en:vacuolar degeneration

•

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

•

en:walking delay

•

en:weakness of neck extensors (rare)

•

atrophie

•

en:shortened open channel duration

•

en:severely decreased or absent lamp2 protein

•

en:muscle weakness after cooling or on warming affected muscle

•

en:neurogenic atrophy seen on muscle biopsy

•

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

•

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

•

en:myogenic profile on electromyography

•

en:myopathic and neurogenic changes seen on emg

•

en:myotonia

•

en:neck flexor weakness

•

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

•

en:scapuloperoneal amyotrophy

•

en:normal respiratory chain studies seen on muscle biopsy

•

en:poor sarcomeric structure (in some patients)

•

en:primarily affects lower limbs

•

en:proximal and distal muscle atrophy in lower limbs

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:rupture of muscle

•

en:scapular muscle atrophy

•

en:distal muscle weakness in lower limbs, severe

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119624 • caches: c1=6 c2=1002 c3=1

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