Clinical utility gene card for McArdle disease
Copyright policy )Clinical utility gene card for McArdle disease
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.
- University of Paris France
- Panthéon-Assas University France
- University of Western Australia Australia
- CENTRE DE RECHERCHE EN MYOLOGIE U974 France
- Sorbonne Paris Cité France
Mutation, Disorders of Sex Development, Glycogen Storage Disease Type V, Humans, Genetic Testing, Muscle, Skeletal
Mutation, Disorders of Sex Development, Glycogen Storage Disease Type V, Humans, Genetic Testing, Muscle, Skeletal
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