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Article

Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease.

Human mutation - 1 Mar 2000

Martín M A, Rubio J C, Campos Y, Vílchez J, Cabello A, Arenas J

Abstract excerpt

We report two novel homozygous mutations in the myophosphorylase gene (PYGM) in a patient with McArdle's disease. A C-to-T transition that changed an arginine to tryptophan at codon 193 (R193W) in exon 5, and a deletion of two adenine base pairs in exon 20 at codon 794/795 (794/795 delAA) were identified. Several lines of evidence suggest the pathogenicity of both mutations: (i) they were the only nucleotide...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Glycogen Storage Disease Type V

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Share to Polymorphism, Restriction Fragment Length

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Source

Identifiers

PMID: 10679948
DOI: 10.1002/(SICI)1098-1004(200003)15:3<294::AID-HUMU13>3.0.CO;2-H

Genes

PYGM

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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