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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.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616199
Orphanet:456369
UMLS:C4015452
MONDO:0014526
High level summary of knowledge for a disease, including descriptions and datasource references.