autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016145
neuromuscular disease caused by qualitative or quantitative defects of dysferlin
is_a
DYSF autosomal recessive limb-girdle muscular dystrophy
exact
LGMD2B
exact
LGMD3
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF
exact
limb-girdle muscular dystrophy due to dysferlin deficiency
exact
limb-girdle muscular dystrophy type 2B
exact
limb-girdle muscular dystrophy, type 2B
related
muscular dystrophy, limb-girdle, autosomal recessive 2
exact
muscular dystrophy, limb-girdle, type 2B
related