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Article

Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.

Neuroscience letters - 31 Dec 2005

Paradas C, Fernandez-Cadenas I, Gallardo E, Lligé D, Arenas J, Illa I, Andreu A L

Abstract excerpt

We report a Spanish family with muscle glycogen phosphorylase (PYGM) deficiency (McArdle's disease) harbouring a novel compound genotype (A659D/L586P). Four individuals who had the same genotype for PYGM, showed a wide variability in the presentation of the clinical phenotype, including one patie...

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Source

Identifiers

PMID: 16154688
DOI: 10.1016/j.neulet.2005.08.026

Genes

ACE
PYGM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16154688-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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