Article
Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation.
Neuromuscular disorders : NMD - 1 Mar 2007
Aquaron Robert, Bergé-Lefranc Jean-Louis, Pellissier Jean-Francois, Montfort Marie-France, Mayan Michèle, Figarella-Branger Dominique, Coquet Michelle, Serratrice Georges, Pouget Jean
Abstract excerpt
We report on 31 patients and 3 affected siblings (17 males and 17 females) from Southern France with McArdle disease (two from Spanish and three from Portuguese background). Molecular analysis revealed the presence of five previously described mutations: the common p.R50X nonsense mutation, the p...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.