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Article

The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).

Muscle & nerve. Supplement - 1 Jan 1995

Tsujino S, Shanske S, Nonaka I, DiMauro S

Abstract excerpt

Glycogen phosphorylase catalyzes the first step of glycogen catabolism. Hereditary defects of muscle phosphorylase lead to a myopathy characterized by exercise intolerance, cramps, and myoglobinuria (McArdle's disease). We have identified ten mutations in the myophosphorylase gene in patients with McArdle's disease. Relatively common mutations include: a nonsense mutation, CGA(Arg) to TGA at codon 49, observed in...

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Identifiers

PMID: 7603523
DOI: 10.1002/mus.880181407

Genes

CGA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).PMID 7603523Read ↗

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McArdle's disease: molecular genetics and metabolic consequences of the phenotype.Semantic proximity Read ↗

Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.Semantic proximity Read ↗

Mutation analysis in myophosphorylase deficiency (McArdle's disease).Semantic proximity Read ↗

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McArdle Disease: New Insights into Its Underlying Molecular MechanismsSemantic proximity Read ↗

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