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Article

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.

Cold Spring Harbor molecular case studies - 1 Feb 2022

Thomas-Wilson Amanda, Dharmadhikari Avinash V, Heymann Jonas J, Jobanputra Vaidehi, DiMauro Salvatore, Hirano Michio, Naini Ali B, Ganapathi Mythily

Abstract excerpt

McArdle disease is a debilitating glycogen storage disease with typical onset in childhood. Here, we describe a former competitive athlete with early adult-onset McArdle disease and a septuagenarian with a history of exercise intolerance since adolescence who was evaluated for proximal muscle weakness. Exome sequencing identified biallelic variants in the PYGM gene for both cases. The former athlete has the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35022222
DOI: 10.1101/mcs.a006173
PMCID: PMC8958908

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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