Clinical utility gene card for McArdle disease

Eur J Hum Genet. 2018 May;26(5):758-764. doi: 10.1038/s41431-017-0070-6. Epub 2018 Jan 25.

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 segments Muscle 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Disorders of Sex Development / genetics*
  • Disorders of Sex Development / physiopathology
  • Genetic Testing*
  • Glycogen Storage Disease Type V / genetics*
  • Glycogen Storage Disease Type V / physiopathology
  • Humans
  • Muscle, Skeletal / pathology
  • Mutation