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Article

U1 snRNA mis-binding: a new cause of CMT1B.

Neurogenetics - 1 Feb 2010

Crehalet Hervé, Latour Philippe, Bonnet Véronique, Attarian Shahram, Labauge Pierre, Bonello Nathalie, Bernard Rafaelle, Millat Gilles, Rousson Robert, Bozon Dominique

Abstract excerpt

We report the molecular characterization of two splice mutations in two different French families affected with a late onset form of Charcot-Marie-Tooth disease type 1B (CMT1B), an autosomal dominant inherited disorder caused by mutations in the myelin protein zero gene. The first substitution, c.306G>A, located in exon 3, does not change the codon p.Val102Val but is co-transmitted with the disease in the first...

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PMID: 19475438
DOI: 10.1007/s10048-009-0199-8

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