RT Journal Article
T1 Clinical utility gene card for McArdle disease.
A1 Taylor, Rhonda L
A1 Davis, Mark
A1 Turner, Emma
A1 Brull, Astrid
A1 Pinos, Tomas
A1 Cabrera, Macarena
A1 Nowak, Kristen J
K1 Genetic testing
K1 Neuromuscular disease
AB 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.
PB Nature Publishing Group
YR 2018
FD 2018-01-25
LK http://hdl.handle.net/10668/12052
UL http://hdl.handle.net/10668/12052
LA en
NO Taylor 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.
DS RISalud
RD Apr 18, 2025