TY  - JOUR
AU  - Taylor, Rhonda L
AU  - Davis, Mark
AU  - Turner, Emma
AU  - Brull, Astrid
AU  - Pinos, Tomas
AU  - Cabrera, Macarena
AU  - Nowak, Kristen J
PY  - 2018
DO  - 10.1038/s41431-017-0070-6
UR  - http://hdl.handle.net/10668/12052
T2  - European journal of human genetics : EJHG
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...
LA  - en
PB  - Nature Publishing Group
KW  - Genetic testing
KW  - Neuromuscular disease
KW  - Disorders of Sex Development
KW  - Genetic Testing
KW  - Glycogen Storage Disease Type V
KW  - Humans
KW  - Muscle, Skeletal
KW  - Mutation
TI  - Clinical utility gene card for McArdle disease.
TY  - research article
VL  - 26
ER  -