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Article

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.

Journal of medical genetics - 1 Mar 2009

García-Consuegra I, Rubio J C, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu A L, Arenas J, Martin M A

Abstract excerpt

OBJECTIVE: To identify pathogenic mutant alleles of the PYGM gene in "genetic manifesting heterozygous" patients with McArdle disease-that is, those in whom we could only find a sole mutant allele by genomic DNA analysis. METHODS: We studied four unrelated patients. PCR-RFLP, gene sequencing, and muscle cDNA analysis were performed to search for mutations in the PYGM gene. The effects of the mutations were...

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

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Source

Identifiers

PMID: 19251976
DOI: 10.1136/jmg.2008.059469

Genes

PYGM

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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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