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Article

Clinical utility gene card for McArdle disease.

European journal of human genetics : EJHG - 1 May 2018

Taylor Rhonda L, Davis Mark, Turner Emma, Brull Astrid, Pinos Tomás, Cabrera Macarena, Nowak Kristen J

Abstract excerpt

Name of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage disease V (GSDV); PYGM deficiency; muscle glycogen phosphorylase deficiency; myophosphorylase deficiency). OMIM# of the disease #232600. Name of the analysed genes or DNA/chromosome segments Muscle glycogen phosphoryalse (PYGM). OMIM# of the gene(s) #608455.Review of the analytical and clinical validity as well as of the...

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Identifiers

PMID: 29371640
DOI: 10.1038/s41431-017-0070-6
PMCID: PMC5945672

Genes

PYGM

Provenance

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