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Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1993; Massachusetts Medical Society; Volume: 329; Issue: 2 Linguagem: Inglês

10.1056/nejm199307083290205

1533-4406

Benjamin B. Roa, Carlos A. Garcia, Ueli Suter, Deanna A. Kulpa, Carol A. Wise, J.J. Mueller, Andrew A. Welcher, G. Jackson Snipes, Eric M. Shooter, Pragna I. Patel, James R. Lupski,

Neurological diseases and metabolism

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. CMT type 1A is associated with a 1.5-megabase (Mb) DNA duplication in region p11.2-p12 of chromosome 17 in most patients. An increased dosage of a gene within the duplicated segment appears to cause the disease. The PMP22 gene, which encodes a myelin protein, has been mapped within the duplication and proposed as a candidate gene for CMT type 1A.