Article
Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.
Genomics - 1 Aug 1993
Ben Othmane K, Middleton L T, Loprest L J, Wilkinson K M, Lennon F, Rozear M P, Stajich J M, Gaskell P C, Roses A D, Pericak-Vance M A
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease type 2 (CMT2) is an inherited peripheral neuropathy characterized by variable age of onset and normal or slightly diminished nerve conduction velocity. CMT2 is pathologically and genetically distinct from CMT type 1 (CMT1). While CMT1 has been shown to be genetically heterogeneous, no chromosomal localization has been established for CMT2. We have performed pedigree linkage...
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