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autosomal recessive limb-girdle muscular dystrophy type 2G

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.
Uniprot Description An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients.
Mondo Term and Equivalent IDs
MONDO:0011170:  autosomal recessive limb-girdle muscular dystrophy type 2G
GARD:0010471: 
MESH:C566599: 
Orphanet:34514: 
SCTID:720522001: