Diko : en:mitochondrial paracrystalline inclusion bodies

en:mitochondrial paracrystalline inclusion bodies

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1838117

Associations d'idées

[F]

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1000

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

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:signs of denervation seen on biopsy

•

en:decreased cytochrome c oxidase activity

•

en:degenerative features seen on muscle biopsy

•

en:dystrophic features

•

en:internal nuclei (in some patients)

•

en:scapular muscle weakness

•

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

•

en:weakness of neck muscles may occur later

•

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

•

en:muscle wasting, severe, primarily in the legs

•

en:denervation seen on emg

•

en:generalized neonatal hypotonia

•

en:increased connective tissue

•

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

•

en:muscle biopsy shows dystrophic pattern

•

en:muscle cramps may affect jaw muscles

•

en:no ragged-red fibers

•

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

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:muscle weakness, proximal greater than distal

•

en:anasarca

•

en:soft tissue or tendinous calcinosis may occur

•

en:poor musculature

•

en:no muscle fiber necrosis

•

en:amyloid deposition in muscle fibers occurs rarely

•

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

•

en:hypoplasia of the hand muscles (29%)

•

en:decreased muscle bulk

•

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

•

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

•

en:decreased exercise tolerance

•

en:atrophy of upper girdle muscles

•

en:distal muscle weakness, mild

•

en:distal muscle weakness occurs later

•

en:muscular hypotonia of the trunk

•

en:wide variation in fiber size

•

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

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:small type ii fibers

•

en:reduced ankle dorsiflexion

•

en:muscular dystrophy (in 1 of 3 patients)

•

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

•

en:hypotonia from birth to age 12

•

en:generalized limb muscle atrophy

•

en:fatigue

•

en:dystrophic changes

•

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

•

en:cellulitis due to immunodeficiency

•

en:decreased endplate potential and amplitudes

•

en:foot extensor muscle weakness (later onset)

•

en:hypoplasia of supraspinatus muscle

•

en:virtually no active movement at birth (wws)

•

en:atrophy of the lower leg muscles

•

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

•

en:independent walking may not be achieved

•

en:muscle biopsy shows mitochondrial aggregates

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

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

•

en:loss of sarcomeric striations

•

en:loss of achr

•

en:upper and/or lower limbs may be affected

•

en:humeroperoneal weakness and atrophy

•

en:distal muscle weakness may occur

•

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

•

en:abnormal iron deposition in mitochondria

•

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

•

en:muscle coenzyme q deficiency

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:weakness of ankle plantar flexion

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:abnormal axons with sprouting and swelling

•

en:nemaline rods (in some patients)

•

en:muscle weakness is predominantly of extremities and tongue

•

en:progressive distal and proximal symmetric limb weakness

•

en:muscle atrophy, upper and lower limbs

•

en:loss of ambulation (in some patients)

•

en:limb-girdle muscle weakness (2 families)

•

en:exercise-induced muscle cramps

•

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

•

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

•

en:attacks precipitated by rest after exercise

•

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

•

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

•

en:decreased secondary clefts

•

en:hypotonia, severe, neonatal

•

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

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:muscle weakness (1 patient)

•

en:rimmed vacuoles with basophilic granular material

•

en:muscle biopsy shows lipid droplets

•

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

•

en:loss of subcutaneous adipose tissue in limbs

•

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

•

en:quadriceps atrophy

•

en:polyglucosan accumulation

•

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

•

en:no dystrophic changes

•

en:increased muscle tone in the lower limbs

•

en:facial paresis

•

en:decreased muscle mass

•

en:decreased mitochondrial complex v activity

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:congenital fiber type disproportion

•

en:decreased numbers of type 2b fibers

•

en:distal leg muscle atrophy

•

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

•

en:mitochondria dna deletion

•

en:prominent veins, lower limbs

•

en:muscle fiber splitting

•

en:paralysis of the lower limbs (later)

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:decreased caveolae in muscle tissue

•

en:necrotic muscle fibers

•

en:weakness of neck extensors (rare)

•

en:type 2 fiber predominance

•

en:abnormally long mitochondria seen on muscle biopsy

•

en:decreased postsynaptic length

•

en:fibrous dysplasia (rare)

•

en:frequent falls

•

en:inclusions are dnajb6-immunoreactive

•

en:muscle fibers appear as fetal myotubules

•

en:tetanus-like muscle contractions

•

en:minimal muscle mass

•

en:a subset of patients develop bilateral weakness

•

en:endplate myopathy

•

en:hypotonia (untreated hypothyroidism)

•

en:biopsy shows dystrophic changes

•

en:muscle biopsy shows type 1 fiber predominance

•

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

•

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

•

en:retroperitoneal fibrosis (rare)

•

en:z-disks with abnormal homogeneous material

•

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

•

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

•

en:fibrillations in affected muscles

•

en:group fiber atrophy (in some patients)

•

en:hypoplasia of serratus anterior muscle

•

en:hyporeflexia in affected muscles

•

en:increased fibrosis

•

en:fiber type variation seen on biopsy

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:shoulder muscle weakness

•

en:aggregates contain granular electron-dense material

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:lipid droplets seen on muscle biopsy

•

en:hernia

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:preserved heel standing

•

en:neonatal hypertonias

•

en:postsynaptic abnormalities

•

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

•

en:normal sensation

•

en:normal or increased facial and neck adipose tissue

•

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:myopathy (rare)

•

en:nemaline rod formation

•

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

•

en:necrosis and degeneration seen on muscle biopsy

•

en:myotonia is present in majority of cases

•

en:myopathic changes seen on biopsy

•

en:myalgia with febrile episodes (rare)

•

en:muscle weakness lower limb

•

en:muscle weakness due to peripheral neuropathy

•

en:muscle weakness, proximal more than distal

•

en:proximal and distal muscle atrophy

•

en:progressive interictal weakness is common

•

en:trunk muscle atrophy

•

en:proximal muscle weakness (120270.0002)

•

en:unable to walk

•

en:buffalo hump (rare)

•

en:axial hypotonia (in some patients)

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:atrophy of anterior compartment tibial muscles

•

en:angular atrophic fibers

•

en:acetazolamide may worsen symptoms

•

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

•

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

•

en:proximal muscle weakness occurs later

•

en:thickened subcutaneous tissue

•

en:sparing of the anterior tibial compartment

•

en:small atrophic fibers (in some patients)

•

en:skeletal myopathy

•

en:skeletal muscle biopsy shows reducing bodies

•

en:severe muscular hypotonia

•

en:scattered necrotic fibers

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:rhabdomyolysis

•

en:replacement of affected muscle tissue with fatty tissue

•

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

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:muscle mri shows fatty infiltration

•

en:centrally located nuclei seen on muscle biopsy

•

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

•

en:distal amyotrophy (hands and feet)

•

en:difficulty raising arms

•

en:deep finger muscle weakness

•

en:decreased size of nerve terminals seen on muscle biopsy

•

en:decreased muscle mitochondrial aconitase

•

en:decreased expression of the vdac1 protein

•

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

•

en:cold sensitivity has been reported

•

en:bulbar weakness

•

en:distal muscle weakness, affecting the lower limbs

•

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

•

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

•

en:ankle reflex absent

•

en:amyotrophy affects c5 to t1 myotomes

•

en:absence of muscle pseudohypertrophy

•

en:absence of laminin alpha-2 chain in muscle

•

en:abnormal z bands

•

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

•

en:centrally nucleated skeletal muscle fibers

•

en:distal lower limb muscle weakness and atrophy

•

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

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:increased fibrosis (in some patients)

•

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

•

en:muscle atrophy (type i)

•

en:mri shows fatty replacement

•

en:mri may show cervical spinal cord atrophy

•

en:marked lack of adipose tissue

•

en:mallory-like bodies

•

en:lymphedema, hands (rare)

•

en:lower limb muscle hypotrophy

•

en:lower limbs more often affected

•

en:inability to run

•

en:electron microscopy showed z-disk streaming

•

en:hypotonia (45%)

•

en:hypotonia, severe (patient b)

•

en:hypertonicity of the lower limbs

•

en:hemihypertrophy of right arm and leg (rare)

•

en:gluteus maximus and thigh adductors most affected

•

en:fiber-type grouping pattern

•

en:familial generalized lipodystrophy

•

en:emg shows myopathy

•

en:emg shows fasciculations

•

en:emg may show myopathic features

•

en:centralized nuclei may be seen

•

en:increased internal nuclei

•

en:chronic fatigable muscles

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:predominantly lower limb lymphedema

•

en:poor sarcomeric structure (in some patients)

•

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

•

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

•

en:nonspecific myopathic changes

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:myxedematous appearance

•

en:myopathic findings on biopsy have been occasionally reported

•

en:myofibrillar disorganization

•

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

•

en:prolonged endplate potentials

•

en:muscle weakness, primarily proximal

•

en:muscle weakness, mild, proximal and distal

•

en:muscle weakness, limb-girdle, mild

•

en:muscle wasting in lower limbs

•

en:muscle cramps (also seen in some heterozygotes)

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

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

•

en:muscle biopsy shows lipid deposition

•

en:muscle biopsy shows grouped atrophy

•

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

•

en:protein aggregates immunopositive for actin and desmin

•

en:muscle atrophy, limb-girdle and proximal

•

en:sparing of small hand and finger muscles

•

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

•

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

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:chronic weakness

•

en:usually no myopathic changes on biopsy

•

en:type 1 fiber predominance

•

en:triceps aplasia

•

en:thick palmar fascia

•

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

•

en:small atrophic muscle fibers

•

en:proximal and distal muscle atrophy in lower limbs

•

en:slim, muscular build (in some patients)

•

en:shoulder girdle weakness

•

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

•

en:ring fibers

•

en:rigidity (uncommon)

•

en:rhabdomyolysis, episodic

•

en:relative sparing of the tibialis anterior

•

en:ragged-red muscle fibers

•

en:proximal weakness

•

en:proximal muscle atrophy (in some patients)

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:vacuolar myopathy

•

en:muscle amyotrophy

•

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

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:generalized muscle contractions, episodic

•

en:firm muscles

•

en:fiber type variation

•

en:fat pads on the hands and feet

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:distal muscle atrophy (1 patient)

•

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

•

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

•

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

•

en:hypothenar muscle atrophy

•

en:decreased postsynaptic folding at the neuromuscular junction

•

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

•

en:decreased muscle bulk (in one patient)

•

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

•

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

•

en:decreased coenzyme q10 content

•

en:decreased activity of complexes ii+iii

•

en:cores contain densely packed myofilaments

•

en:muscle

•

en:congophilic inclusions

•

en:hematomas, recurrent large subcutaneous

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:hypotonia, mild (1 patient)

•

en:lipoma

•

en:multi-core congenital myopathy

•

en:hypotonia, neonatal (in some patients)

•

en:mitochondrial complex i deficiency

•

en:mild weakness of the small hand muscles

•

en:mild variability in muscle fiber size

•

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

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:loss of subcutaneous fat, diffuse

•

en:loss of gluteal adipose tissue

•

en:mitochondrial proliferation

•

en:lipodystrophy (in some patients)

•

en:hypotonic

•

en:hypotonia, truncal and appendicular

•

en:hypotonia (patient a)

•

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

•

en:mitochondrial swelling

•

en:increased adipose fibrosis

•

en:internal nuclei

•

en:increased variability of fiber size seen on muscle biopsy

•

en:inguinal hernia

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

en:painful swelling in aponeuroses

•

en:no staining for periodic acid schiff (pas)

•

en:no facial muscle involvement

•

en:neuropathic or myopathic changes seen on emg

•

en:neurogenic abnormalities seen on emg

•

en:nemaline bodies

•

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

•

en:muscle weakness trunk

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle weakness associated with fasting or infection

•

en:muscle stiffness (in older patients)

•

en:muscle hypertrophy

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:muscle biopsy shows rimmed vacuoles

•

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

•

en:muscle biopsy shows nonspecific myopathic changes

•

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

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:muscle pain (less common)

•

en:thin musculature

•

en:poor muscle bulk

•

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

•

en:amorphous granulofilamentous material associated with z-discs

•

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

•

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

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:abnormal jitter seen on emg

•

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

•

en:walking may be limited

•

en:waddling gait

•

en:usually a unilateral disorder

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:progressive distal muscle weakness

•

en:triceps weakness

•

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

•

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

•

en:subcutaneous fat markedly reduced (in some patients)

•

en:skeletal muscle biopsy showed mitochondrial complex i deficiency (1 family)

•

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

•

en:quadriceps weakness

•

en:proximal muscle weakness, less severe

•

en:prolonged endplate currents

•

en:muscle biopsy shows myofibrillar myopathy

•

en:emg shows neurogenic changes

•

en:muscle biopsy may show inflammatory changes

•

en:congophilic staining

•

en:edematous hands and feet (1 patient)

•

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

•

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

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:decreased thiamine pyrophosphate

•

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

•

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

•

en:cytochrome c oxidase-negative fibers

•

en:clumsiness

•

en:electromyographic decrements in some muscles

•

en:centralized nuclei, rare

•

en:biopsy shows myopathic and dystrophic changes

•

en:axial weakness

•

en:atrophy of type i fibers

•

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

•

en:absence of some scapular muscles (less common)

•

en:absence of necrosis

•

en:abnormal mitochondria with loss of cristae

•

en:angulated fibers

•

en:edema of lower extremity

•

en:emg shows chronic denervation

•

en:muscle atrophy, severe

•

en:increased numbers of type 1 fibers

•

en:mtdna depletion seen on muscle biopsy

•

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

•

en:mild kinetic abnormalities of the achr (in some patients)

•

en:lymphedema of the extremities

•

en:lymphedema

•

en:limb muscular atrophy

•

en:intracellular granular osmiophilic deposits

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:increased variability in muscle fiber diameter

•

en:increased mitochondria with abnormal cristae

•

en:emg shows fibrillation potentials

•

en:increased lysosomal glycogen

•

en:increased fat and fibrous tissue

•

en:hypotonia, neonatal and later

•

en:glycogen depletion in skeletal muscle

•

en:finger and wrist extensor weakness

•

en:fatty infiltration seen on muscle biopsy

•

en:extensor finger muscle weakness

•

en:exercise-induced muscle fatigue

•

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

•

en:amyotrophy, distal, upper and lower limbs

•

en:glycogen accumulation seen on biopsy

•

en:ankle edema (finding)

•

en:muscle weakness in forearm muscles

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:onset of lymphedema around puberty

•

en:nuclear clumps

•

en:necrotic changes (finding)

•

en:neck flexor weakness

•

en:myopathic pattern seen on emg

•

en:myofibrillar myopathy

•

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

•

en:muscle weakness (hcs)

•

en:pelvic girdle weakness

•

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

•

en:muscle weakness, congenital

•

en:muscle fatigue

•

en:muscle biopsy shows small rounded fibers

•

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

•

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

•

en:muscle biopsy shows dystrophic features

•

en:muscle atrophy (in some patients)

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:pelvic girdle muscle atrophy

•

en:poor muscle build

•

en:motor delay

•

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

•

en:atrophic fibers seen on biopsy

•

en:mitochondrial myopathy and sideroblastic anemia

•

en:weakness of anterior compartment tibial muscles

•

en:upper limb weakness

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:transient neonatal hypotonia (less common)

•

en:toe and foot dorsiflexor weakness

•

en:thickening of fascia of forearm

•

en:thenar eminence hypoplasia

•

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

•

en:poor muscle mass

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:shoulder weakness

•

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

•

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

•

en:pyruvate oxidation defect

•

en:proximal muscle weakness (85% of patients)

•

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

•

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

•

en:postexercise cmap amplitude facilitation

•

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

•

en:weakness

•

en:mitochondria show paracrystalline inclusions

•

en:decreased muscle mass (in some patients)

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:endomysial fibrosis

•

en:emg shows myopathic features

•

en:electromyography shows myotonic discharges

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:distal lower limb amyotrophy

•

en:distal atrophy of the legs

•

en:decremental cmap response to repetitive nerve stimulation

•

en:decreased muscle mass (especially in lower limbs)

•

en:fibromyalgia

•

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

•

en:decreased achr

•

en:calf hypertrophy (less common)

•

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

•

en:biopsy shows myopathy without vacuoles

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:biceps brachii atrophy

•

en:attacks precipitated by cold temperature

•

en:mild endplate myopathy

•

en:fatty infiltration of affected muscles

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

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

•

en:increased endomysial connective tissue around muscle fibers

•

en:focal loss of cross- striations

•

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

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:localized cellulitis

•

en:limb lymphedema (in some patients)

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:increased internal nuclei in skeletal muscle fibers

•

en:increased fibrosis (family a)

•

en:increased fatty infiltration

•

en:lower limbs more affected than upper limbs

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:histochemically normal type-ii muscle fibers

•

en:hypotonia, severe, persistent

•

en:glycogen deficiency in muscle fibers

•

en:fragmented mitochondrial network

•

en:haemorrhage subcutaneous

•

en:hyaline inclusion

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:hypotonia, generalized, severe

•

en:hypotonia, infantile, severe

•

en:myositis (in some patients)

•

en:myopathy, nonprogressive

•

en:myopathic changes on pathology

•

en:muscular stiffness

•

en:muscular appearance

•

en:muscle weakness, upper and lower limbs

•

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

•

en:muscle weakness, lower limbs (patient a)

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle weakness, distal more than proximal

•

en:muscle hyperirritability

•

en:muscle fatigability

•

en:muscle biopsy shows nemaline rods

•

en:muscle biopsy shows fiber type disproportion

•

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

•

en:muscle biopsy shows centralized nuclei

•

en:muscle biopsy shows atrophic fibers

•

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

•

en:motor clumsiness

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:proximal lower limb amyotrophy

•

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

•

en:reduced muscle bulk

•

en:shortening of various muscle-tendon groups in feet

•

en:mitochondrial dna depletion (in some)

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:rupture of tendon

•

en:rounded, atrophic fibers (family a)

•

en:repetitive action potentials in response to single nerve stimulation

•

en:relatively preserved limb strength

•

en:reduced muscle tone but normal power

•

en:ragged red fibers seen on biopsy

•

en:nemaline rods (rare)

•

en:proximal muscle weakness (in some patients)

•

en:positive staining for slow myosin heavy chain

•

en:polymyositis

•

en:peroneal muscle weakness

•

en:peripheral edema

•

en:no myofibrillar abnormalities or protein aggregation

•

en:normal or decreased facial and neck adipose tissue

•

en:neurogenic atrophy of muscle fibers seen on biopsy (in some patients)

•

en:mitochondrial vacuolization seen on muscle biopsy

•

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

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

en:decreased coenzyme q10 levels in muscle

•

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

•

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

•

en:distal limb muscle weakness (less common)

•

en:degeneration of junctional folds

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

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

•

en:decreased lipoic acid

•

en:decreased complex i activity (rare)

•

en:decreased ability to run

•

en:distal muscle weakness due to peripheral neuropathy

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:chronic denervation/reinnervation seen on emg

•

en:calf hypertrophy (reported in 1 family)

•

en:biopsy muscle normal

•

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

•

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

•

en:acquired partial lipodystrophy

•

en:skeletal muscle may show less severe mtdna deletion

•

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

•

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

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:increased endo- and perimysial connective tissue

•

en:loss of subcutaneous fat, generalized

•

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

•

en:loss of facial adipose tissue

•

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

•

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

•

en:increased subcutaneous truncal adipose tissue

•

en:increased perisarcolemmal calcium deposition

•

en:increased fatigability

•

en:increased centralized internal nuclei

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:hypotrophic type 2 muscle fibers

•

en:hypotonia (1 patient)

•

en:hypertonia late

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:global muscle weakness

•

en:gait abnormality

•

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

•

en:exercise intolerance (cvs+)

•

en:enteroviral dermatomyositis syndrome

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

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

•

en:small or absent axon terminals

•

en:muscle biopsy shows chronic and active denervation

•

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

•

en:muscle wasting (especially legs and arms)

•

en:muscle spasticity

•

en:muscle mounding

•

en:muscle hypertrophy may occur

•

en:muscle fiber regeneration

•

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

•

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

•

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

•

en:muscle weakness restricted to the upper limb

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:muscle atrophy (variable)

•

en:muscle aches, intermittent

•

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

•

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

•

en:minicores (in some)

•

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

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:muscle weakness and atrophy, distal

•

en:myofibroma (in 1 patient)

•

en:lack of antigravity movements (patient b)

•

en:redundancy of basal lamina with accumulated debris

•

en:variable fiber size

•

en:variability in fiber size

•

en:smooth muscle may also become involved

•

en:tibialis anterior muscle affected

•

en:subcutaneous lipomatous tissue

•

en:shortened open channel duration

•

en:scapular muscle atrophy

•

en:rupture of muscle

•

en:proximal muscle weakness more severe than distal muscle weakness

•

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

•

en:proximal muscles may be mildly affected

•

en:progressive proximal muscle involvement

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:normal respiratory chain studies seen on muscle biopsy

•

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

•

en:neuropathic process seen on muscle biopsy

•

en:neonatal hypotonia

•

en:neonatal edema (in some patients)

•

en:nemaline bodies occur in type 1 fibers

•

en:limb-girdle myopathy

•

en:underdeveloped muscles (in some patients)

•

en:intranuclear inclusions (1 family)

•

en:cytoplasmic inclusion bodies (finding)

•

en:distal limb muscle atrophy, lower more than upper

•

en:disruption of sarcomeres with disorganization of the z band

•

en:difficulty walking, running, climbing stairs

•

en:difficulty in toe walking

•

en:degenerating junctional folds

•

en:decreased postsynaptic achr

•

en:decreased collagen vi

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:chronic denervation seen on emg

•

en:distal muscle atrophy due to denervation

•

en:broad-based gait

•

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

•

en:areflexia due to muscle weakness

•

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

•

en:absence of gamma-sarcoglycan protein

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:spontaneous muscle activity

•

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

•

en:distal limb muscle weakness and atrophy

•

en:tortuous lymphatic tracts

•

en:distal muscle wasting, mild

•

en:gowers sign (patient a)

•

en:increased lipid droplets and abnormal mitochondria

•

en:increased muscle lipid content

•

en:increased connective tissue and fat

•

en:inability to sit or hold head up

•

en:hypotonia (2 patients)

•

en:hip girdle muscle atrophy

•

en:hamstring muscle affected

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

en:hip abductor weakness and atrophy

•

en:frontalis muscle weakness

•

en:emg shows myopathic and neurogenic changes

•

en:dorsal and flexor muscles of the forearm are involved

•

en:emg may show neurogenic changes

•

en:forearm muscle weakness

•

en:emg shows high-frequency spontaneous discharges

•

en:emg shows myotonic changes

•

en:enlarged nuclei with central pallor

•

en:extensive fatty infiltration on biopsy

•

en:distal muscle weakness

•

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

•

en:muscle fiber atrophy, profound (rare)

•

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

•

en:muscle weakness, proximal, limb-girdle

•

en:muscle weakness, particularly of the lower limbs

•

en:muscle weakness, hypokalemia-related

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

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

•

en:muscle cramps during exercise

•

en:muscle cramps, painful, recurrent

•

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

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:muscle aches, cramps

•

en:multiple mitochondrial dna deletions

•

en:mitochondrial myopathy, severe

•

en:nonspecific muscle fiber atrophy

•

en:proximal muscle involvement may occur

•

en:paracrystalline inclusions

•

en:quadriceps aplasia

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

en:loss of independent ambulation around age 12 years

•

en:tubular aggregates in muscle fibers may occur

•

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

•

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

•

en:rhabdomyolysis, episodic and recurrent

•

en:repetitive response to single nerve stimulation

•

en:reduced lower limb subcutaneous fat

•

en:proximal upper limb amyotrophy

•

en:pena-shokeir syndrome type i

•

en:proximal muscle weakness in upper limbs

•

en:proximal muscle weakness, lower limbs, mild

•

en:proximal limb muscle weakness (occurs later)

•

en:progression to wheelchair in fourth decade

•

en:predominance of oxidative fibers

•

en:poor exercise tolerance

•

en:plantar fibromatosis

•

en:phagocytic vacuoles with degraded membranous material

•

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

•

en:distal lower limb anterior compartment weakness

•

en:lipomas or lipomatous masses (most cases)

•

en:decreased atp production

•

en:denervation of skeletal muscles

•

en:deltoid muscle hypoplasia

•

en:degrading mitochondria

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:decremental muscle response to repetitive nerve stimulation

•

en:decreased glycosylation of alpha-dystroglycan

•

en:decreased caveolin-3 expression on muscle biopsy

•

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

•

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

•

en:central cores seen on muscle biopsy

•

en:cellulitis or infection may occur

•

en:carpopedal spasm

•

en:biopsy shows defects in pyruvate oxidation

•

en:accelerated decay of the synaptic current

•

en:abnormal fiber size variation

•

en:abnormal fatigue

•

en:vacuoles in the myofiber cytoplasm

•

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

•

en:disruption plasma membrane (in some patients)

•

en:limb hypertonia

•

en:hand muscle atrophy

•

en:jitter

•

en:inflammatory cells absent

•

en:infantile axial hypotonia

•

en:increased glycogen

•

en:increased central nucleation

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:hyporeflexia or areflexia

•

en:hypoglycosylation of alpha-dystroglycan

•

en:generalized muscle weakness, proximal and distal

•

en:distal muscle weakness, predominantly lower limbs

•

en:generalized muscle weakness

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:generalized amyotrophy

•

en:facial muscle weakness and atrophy, progressive

•

en:endplate abnormalities

•

en:emg shows increased insertion activity and fibrillation

•

en:easy fatigue

•

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

•

en:ubiquinone decreased

•

en:shortening of various muscle-tendon groups in legs

•

en:weakness of all intrinsic hand muscles (later)

•

en:myalgia (in some patients)

•

en:pectoralis major hypoplasia

•

en:normal or increased abdominal adipose tissue

•

en:myotonic discharges

•

en:myotonia

•

en:myopathy in approximately 45% of patients

•

en:myopathy, mild to severe

•

en:myopathic features seen on biopsy

•

en:muscle weakness and atrophy may be asymmetric

•

en:poor development of the postsynaptic membrane

•

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

•

en:muscle weakness, predominantly proximal

•

en:muscle hypertonia

•

en:muscle cramp

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:muscle biopsy shows neurogenic changes

•

en:muscle biopsy shows myofibrillar disruption

•

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

•

en:pelvic muscle involvement occurs later

•

en:primarily affects lower limbs

•

en:muscle atrophy appears later in disease course

•

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

•

en:z-band streaming

•

en:vacuoles are autophagocytic

•

en:type 1 fiber atrophy

•

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

•

en:truncal hypotonia (family a)

•

en:thickened endplate basal lamina seen on muscle biopsy

•

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

•

en:swelling of the hands and feet, episodic

•

en:stiffness

•

en:prolonged achr channel opening episodes

•

en:soft tissue vascular malformations

•

en:skeletal muscle weakness

•

en:shoulder girdle muscle atrophy

•

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

•

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

•

en:scapuloperoneal amyotrophy

•

en:relative muscle weakness, especially in pelvic girdle

•

en:proximal myopathy

•

en:muscle biopsy shows atrophy

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:mitochondrial dna deletion (1 patient)

•

en:decreased cytochrome c oxidase staining

•

en:distal muscle atrophy, affecting the lower limbs

•

en:distal limb muscle weakness, lower more than upper

•

en:denuded postsynaptic regions

•

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

•

en:decremental response to repetitive nerve stimulation

•

en:decreased shank muscle mass

•

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

•

en:congophilic deposits

•

en:electromyogram normal

•

en:casq1-immunopositive inclusions

•

en:asymmetric muscle involvement

•

en:angulated atrophic fibers

•

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

•

en:adhalin deficiency seen on muscle biopsy

•

en:accumulated lipid droplets seen on muscle biopsy

•

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

•

en:abdominal muscle hypoplasia

•

en:distal myopathy (in 1 family)

•

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

•

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

•

en:increased falls

•

en:lymphedema, dorsa of feet

•

en:macroglossia

•

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

•

en:loss of antigravity strength

•

en:loss of ability to walk in early childhood

•

en:lipid accumulation in muscle tissue

•

en:increased visceral fat

•

en:increased length of endplate regions seen on muscle biopsy

•

en:infantile muscular hypotonia

•

en:inclusions are tdp43-immunoreactive

•

en:flaccid weakness or paralysis, episodic attacks

•

en:facial muscle atrophy of involved side

•

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

•

en:hypertonia in infancy

•

en:generalized hypotonia

•

en:generalized amyoplasia

•

en:hyporeflexia

•

en:fatty replacement

•

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

•

en:decreased hand grip strength

•

en:decreased distal reflexes

•

en:decreased activity of mitochondrial complex iii

•

en:complex v deficiency

•

en:congenital muscular dystrophy (disorder)

•

en:congenital absence of gluteal muscles

•

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

•

en:coenzyme q10 deficiency

•

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

•

en:central nuclei

•

en:calf muscle enlargement

•

en:decreased or absent ankle reflexes

•

en:distal muscle weakness, lower legs

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:denervation

•

en:deposits immunoreactive to beta-amyloid protein

•

en:difficulty rising from a squatting position

•

en:difficulty walking

•

en:disorganized myofilaments seen on muscle biopsy

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:distal amyotrophy

•

en:distal muscle weakness, upper and lower limbs

•

en:easy bruisability of lower extremities

•

en:edema is present at birth and then slowly decreases

•

en:emg shows fibrillations

•

en:emg shows neurogenic changes consistent with denervation

•

en:benign soft tissue developmental anomalies

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:calf hypertrophy (uncommon)

•

en:short and thickened z-discs

•

en:atrophic muscle fiber on biopsy

•

en:small round skeletal muscle fibers

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:positive staining for atpase activity at ph of 4.3

•

en:progressive proximal muscle weakness

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

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

•

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

•

en:rectus abdominis muscle separation

•

en:reduced muscle strength (in some patients)

•

en:reduced postsynaptic cleft area

•

en:rhabdomyolysis with exercise (in older patients)

•

en:severe disability within 20 years of onset

•

en:shoulder muscle hypoplasia

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:some abnormal aggregation of mitochondria

•

en:atrophic calf muscles

•

en:stiffness (uncommon)

•

en:subsarcolemmal mitochondrial accumulation

•

en:umbilical depression

•

en:uterine muscle may be stiff during pregnancy

•

en:velopharyngeal muscle weakness

•

en:z-line streaming see on electron microscopy

•

en:muscle soft, tissue

•

en:'hanging' big toe

•

en:abnormalities in myofibril organization

•

en:abnormal mitochondrial morphology

•

en:absence of caveolin-3 staining

•

en:absence of telethonin protein

•

en:anterior tibial muscles first involved

•

en:exercise-induced weakness

•

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

•

en:facial edema

•

en:red-ragged fibers (2p21del)

•

en:myopathic changes seen on emg

•

en:myopathy

•

en:myopathy with abnormal lipid metabolism

•

en:normal mitochondrial morphology (1 patient)

•

en:normal neonatal period may occur before weakness is apparent

•

en:normal or increased truncal adipose tissue

•

en:no staining for oxidative enzymes

•

en:peroneal muscle atrophy

•

en:preserved junctional folds

•

en:proximal amyotrophy

•

en:proximal muscle weakness, limb-girdle distribution

•

en:proximal muscle weakness (occasional)

•

en:recovery between attacks

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:muscular atrophy

•

en:scapuloperoneal weakness

•

en:secondary loss of merosin and desmin

•

en:secondary myopathic changes

•

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

•

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

•

en:umbilical hernia

•

en:upper limb involvement may occur later

•

en:variation of myofiber diameter

•

en:weakness and wasting of the lower limbs

•

en:weakness of the anterior tibial muscle and toe extensors

•

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

•

en:weakness worsened by activity

•

oedème facial

•

en:myasthenias

•

en:muscle weakness, variable

•

en:gait unsteady

•

en:limb-girdle muscle weakness

•

en:granular deposits in the sarcomeres

•

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

•

en:hyperactive deep tendon reflexes

•

en:hypotonia (in some patients)

•

en:hypotrophy of the small hand muscles

•

en:imaging shows muscle atrophy and fatty replacement

•

en:impaired mitochondrial respiration

•

en:increased focal mitochondrial density

•

en:increased intraabdominal fat

•

en:increased numbers of endplate regions seen on muscle biopsy

•

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

•

en:increased variation in fiber size seen on muscle biopsy

•

en:large hypertrophied fibers

•

en:lipid storage, mainly in type i fibers

•

en:muscle weakness, lower limbs, during exercise

•

en:lipodystrophy

•

en:loss of lower-limb tendon reflexes

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:muscles become hard and tender during exercise

•

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

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:muscle biopsy shows loss of myofibrillar organization

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:muscle fiber immaturity

•

en:muscle hematoma

•

en:muscle rigidity

•

en:pelvic girdle weakness and atrophy

◀

Génériques

[F] [H]

›

en:mitochondrial

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119958 • caches: c1=54 c2=1810 c3=525

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