Projects per year
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 segmentsMuscle 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.