autosomal recessive limb-girdle muscular dystrophy type 2X
Autosomal recessive limb-girdle muscular dystrophy type 2X is 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.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
BVES autosomal recessive limb-girdle muscular dystrophy
exact
LGMD2X
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES
exact
autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome
exact
muscular dystrophy, limb-girdle, autosomal recessive 25
exact
muscular dystrophy, limb-girdle, type 2X
exact
muscular dystrophy, limb-girdle, type 2x
exact