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polyglucosan body myopathy type 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.
Uniprot Description A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase.
Mondo Term and Equivalent IDs
MONDO:0014526:  polyglucosan body myopathy type 2
Orphanet:456369: 
UMLS:C4015452: