A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.
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epidermolysis bullosa simplex 5B, with muscular dystrophy
MONDO:0009181
autosomal recessive limb-girdle muscular dystrophy type 2A
MONDO:0009675
autosomal recessive limb-girdle muscular dystrophy type 2B
MONDO:0009676
autosomal recessive limb-girdle muscular dystrophy type 2C
MONDO:0009677
autosomal recessive limb-girdle muscular dystrophy type 2H
MONDO:0009683
autosomal recessive limb-girdle muscular dystrophy type 2F
MONDO:0011028