Publication:
Clinical utility gene card for McArdle disease.

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2018-01-25

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

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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.

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

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