Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis.

doi:10.1002/ajmg.1320420514

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Article

Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis.

American journal of medical genetics - 1 Mar 1992

Momoi T, Sano H, Yamanaka C, Sasaki H, Mikawa H

Abstract excerpt

A review of the case histories of 19 Japanese patients with enzymatically proven glycogen storage disease (GSD) III who developed muscular symptoms at various ages illustrates the phenotypic variability of this disease. There seem to be 4 subgroups of GSD III with muscle involvement according to...

Topics

Female
Glycogen Storage Disease Type III
Humans
Infant
Japan
Male
Neuromuscular Diseases
Phenotype
Prognosis

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