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Article

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

The Journal of clinical investigation - 15 Feb 1996

Bao Y, Kishnani P, Wu J Y, Chen Y T

Abstract excerpt

Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient glycogen-branching enzyme (GBE) activity. The classic and most common form is progressive liver cirrhosis and failure leading to either liver transplantation or death by 5 yr of age. However, the liver disease is not always progressive. In addition, a neuromuscular type of the disease has been reported. The...

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Identifiers

PMID: 8613547
DOI: 10.1172/JCI118517
PMCID: PMC507139

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