Publication: Clinical utility gene card for McArdle disease.
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Identifiers
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
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
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
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.