| 'blood vessel epicardial substance'-gerelateerde 'limb-girdle'-spierdystrofie (aandoening) |
| BVES-gerelateerde 'limb-girdle'-spierdystrofie |
| LGMD2X
'blood vessel epicardial substance'-gerelateerde 'limb-girdle'-spierdystrofie
'limb-girdle muscular dystrophy' 2X
autosomaal recessieve gordeldystrofie type 2X
autosomaal recessief syndroom van 'limb-girdle'-spierdystrofie en hartritmestoornis
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| BVES-related limb girdle muscular dystrophy |
| BVES (blood vessel epicardial substance) related limb girdle muscular dystrophy
Blood vessel epicardial substance related limb girdle muscular dystrophy
Limb girdle muscular dystrophy 2X
Autosomal recessive limb girdle muscular dystrophy, cardiac arrhythmia syndrome
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| A rare subtype of autosomal recessive limb girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibers. |
