Article
Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.
Neurogenetics - 1 Sept 1997
Latour P, Lévy N, Paret M, Chapon F, Chazot G, Clavelou P, Couratier P, Dumas R, Ollagnon E, Pouget J, Setiey A, Vallat J M, Boucherat M, Fontes M, Vandenberghe A
Abstract excerpt
The present study reports eight additional mutations in the connexin32 gene associated with the X-linked form of Charcot-Marie-Tooth disease. One of these mutations was found twice in two apparently unrelated families. This form of the disease is demyelinating and dominant. However, patient selection for mutational screening should not be limited to these criteria since presentation can either be familial or...
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