Publication:
Clinical utility gene card for McArdle disease.

No Thumbnail Available

Date

2018-01-25

Authors

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

Advisors

Journal Title

Journal ISSN

Volume Title

Publisher

Nature Publishing Group
Metrics
Google Scholar
Export

Research Projects

Organizational Units

Journal Issue

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.

Description

MeSH Terms

Disorders of Sex Development
Genetic Testing
Glycogen Storage Disease Type V
Humans
Muscle, Skeletal
Mutation

DeCS Terms

Enfermedad del almacenamiento de glucógeno tipo V
Genes
Dioscorea
Bases de datos genéticas
Enfermedad
ADN
Revisión
Glucógeno
Cromosomas
Músculos

CIE Terms

Keywords

Genetic testing, Neuromuscular disease

Citation

Taylor RL, Davis M, Turner E, Brull A, Pinos T, Cabrera M,et al. Clinical utility gene card for McArdle disease. Eur J Hum Genet. 2018 May;26(5):758-764.