%0 Journal Article
%A Taylor, Rhonda L
%A Davis, Mark
%A Turner, Emma
%A Brull, Astrid
%A Pinos, Tomas
%A Cabrera, Macarena
%A Nowak, Kristen J
%T Clinical utility gene card for McArdle disease.
%D 2018
%U http://hdl.handle.net/10668/12052
%X 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.
%K Genetic testing
%K Neuromuscular disease
%~