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Article

Genotype modulators of clinical severity in McArdle disease.

Neuroscience letters - 18 Jul 2007

Rubio Juan C, Gómez-Gallego Félix, Santiago Catalina, García-Consuegra Inés, Pérez Margarita, Barriopedro María I, Andreu Antoni L, Martín Miguel A, Arenas Joaquín, Lucia Alejandro

Abstract excerpt

The phenotypic manifestation of McArdle disease varies considerably from one individual to the next. The purpose of this study was to assess the possible association between the clinical severity of the disease, and each of the genotypes PYGM (R50X), ACE (I/D), AMPD1 (Q12X), PPARGC1A (G482S) and...

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Source

Identifiers

PMID: 17630210
DOI: 10.1016/j.neulet.2007.06.025

Genes

ACE
PYGM
ACTN3
AMPD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17630210-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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