Project description: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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Clinical utility gene card for: Vici Syndrome.

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Clinical Utility Gene Card for: incontinentia pigmenti.

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Clinical Utility Gene Card for: campomelic dysplasia.

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Project description: Not available