Clinical utility gene card for McArdle disease

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

Research output: Contribution to journalArticle

Abstract

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 segmentsMuscle glycogen phosphoryalse (PYGM). OMIM# of the gene(s)#608455. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in the PYGM gene(s) in ⊠ diagnostic, ⊠ predictive and ⊠ prenatal settings and for ⊠ risk assessment in relatives.

Original languageEnglish
Pages (from-to)758-764
Number of pages7
JournalEuropean Journal of Human Genetics
Volume26
Issue number5
DOIs
Publication statusPublished - 1 May 2018

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