Article
Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.
Neurology - 25 Sept 2007
Salin-Cantegrel A, Rivière J-B, Dupré N, Charron F M, Shekarabi M, Karéméra L, Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert M M, Willemsen M A A P, Jarrar R, Lapointe J-Y, Rouleau G A
Abstract excerpt
BACKGROUND: Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a severe and progressive autosomal recessive polyneuropathy. Mutations in the potassium-chloride cotransporter 3 gene (KCC3) were identified as responsible for HMSN/ACC in the French Canadian (FC) population. In the present study, the authors were interested in finding new mutations in non-FC populations,...
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