Article
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Brain : a journal of neurology - 1 Jun 2007
Müller Juliane S, Herczegfalvi Agnes, Vilchez Juan J, Colomer Jaume, Bachinski Linda L, Mihaylova Violeta, Santos Manuela, Schara Ulrike, Deschauer Marcus, Shevell Michael, Poulin Chantal, Dias Ana, Soudo Ana, Hietala Marja, Aärimaa Tuula, Krahe Ralf, Karcagi Veronika, Huebner Angela, Beeson David, Abicht Angela, Lochmüller Hanns
Abstract excerpt
Dok ('downstream-of-kinase') family of cytoplasmic proteins play a role in signalling downstream of receptor and non-receptor phosphotyrosine kinases. Recently, a skeletal muscle receptor tyrosine kinase (MuSK)-interacting cytoplasmic protein termed Dok-7 has been identified. Subsequently, we and others identified mutations in DOK7 as a cause of congenital myasthenic syndromes (CMS), providing evidence for a...
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