autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
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MONDO:0100493
autosomal recessive titinopathy
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LGMD2J
exact
TTN autosomal recessive limb-girdle muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN
exact
limb-girdle muscular dystrophy type 2J
related
muscular dystrophy, limb-girdle, autosomal recessive 10
exact
muscular dystrophy, limb-girdle, type 2J
exact