Taylor, Rhonda LDavis, MarkTurner, EmmaBrull, AstridPinos, TomasCabrera, MacarenaNowak, Kristen J2023-01-252023-01-252018-01-25Taylor 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.http://hdl.handle.net/10668/12052Name 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.enGenetic testingNeuromuscular diseaseDisorders of Sex DevelopmentGenetic TestingGlycogen Storage Disease Type VHumansMuscle, SkeletalMutationresearch article29371640Restricted AccessEnfermedad del almacenamiento de glucógeno tipo VGenesDioscoreaBases de datos genéticasEnfermedadADNRevisiónGlucógenoCromosomasMúsculos10.1038/s41431-017-0070-61476-5438PMC5945672https://www.nature.com/articles/s41431-017-0070-6.pdfhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945672/pdf