Article
Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease.
European neurology - 1 Jan 1997
Sturtz F G, Latour P, Mocquard Y, Cruz S, Fenoll B, LeFur J M, Mabin D, Chazot G, Vandenberghe A
Abstract excerpt
Type 1A of Charcot-Marie-Tooth disease (CMT1A) is associated with a microduplication of chromosome 17 (region 17p11.2) which contains PMP22, an important gene for peripheral nerve myelination. Patients carrying two duplications are expected to have a more severe phenotype, close to the Dejerine-Sottas syndrome. In this article, we report a family of 5 CMT1A patients in whom the unrelated father and mother carry a...
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