A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities.
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autosomal recessive limb-girdle muscular dystrophy type 2J
MONDO:0012127
early-onset myopathy with fatal cardiomyopathy
MONDO:0012714
autosomal recessive centronuclear myopathy
MONDO:0015705
classic multiminicore myopathy
MONDO:0017939
autosomal recessive distal titinopathy
MONDO:0100495
Emery-Dreifuss-like muscular dystrophy
MONDO:0100496