Article
Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?
Neuromuscular disorders : NMD - 1 Mar 2009
González-Freire Marta, Santiago Catalina, Gómez-Gallego Félix, Pérez Margarita, Foster Carl, Arenas Joaquín, Lucia Alejandro
Abstract excerpt
There is individual variability in the clinical manifestation of McArdle disease, with women generally being more severely affected than men. We compared clinical presentation and exercise capacity between (i) four women with McArdle disease (aged 17, 36, 42 and 70 years) who were also carriers of the K153R variant in the myostatin (GDF-8) gene and in (ii) four women with this disorder matched forage (16, 33, 40...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.