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Article

Novel mutation in the PYGM gene resulting in McArdle disease.

Archives of neurology - 1 Dec 2006

Rubio Juan C, Lucia Alejandro, Fernández-Cadenas Israel, Cabello Ana, Blázquez Alberto, Gámez Josep, Andreu Antoni L, Martín Miguel A, Arenas Joaquin

Abstract excerpt

BACKGROUND: McArdle disease is a common metabolic disorder characterized by marked exercise intolerance, premature fatigue during exertion, myalgia, and cramps. Despite the wide knowledge of the molecular basis of McArdle disease, few studies have used a physiological approach or explored the possibility of improving the exercise capacity of these patients. OBJECTIVES: To describe 3 unrelated patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17172620
DOI: 10.1001/archneur.63.12.1782

Genes

PYGM

Variants

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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Novel mutation in the PYGM gene resulting in McArdle disease.PMID 17172620Read ↗

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Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.Semantic proximity Read ↗

A novel compound heterozygous mutation in PYGM gene associated with 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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