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autosomal recessive limb-girdle muscular dystrophy type 2J

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset.
Mondo Term and Equivalent IDs
MONDO:0012127:  autosomal recessive limb-girdle muscular dystrophy type 2J
GARD:0012534: 
MESH:C563854: 
Orphanet:140922: 
UMLS:C1837342: