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Article

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.

The Journal of clinical investigation - 15 Jul 1996

Shen J, Bao Y, Liu H M, Lee P, Leonard J V, Chen Y T

Abstract excerpt

Glycogen storage disease type HI (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debranching enzyme (GDE) activity. Most GSD-III patients are GDE deficient in both liver and muscle (type IIIa), and some GSD-III patients have GDE absent in liver but retained in muscle (type IIIb). The molecular basis for this enzymatic variability is largely unknown. In the present study, the analysis of...

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Identifiers

PMID: 8755644
DOI: 10.1172/JCI118799
PMCID: PMC507437

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