Article
Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.
Brain pathology (Zurich, Switzerland) - 1 Oct 1992
Lupski J R, Garcia C A
Abstract excerpt
Charcot-Marie-Tooth (CMT) syndrome describes a genetically and clinically heterogeneous group of polyneuropathies. Electrophysiologically, at least two types of CMT can be distinguished; CMT1 which has decreased nerve conduction velocities (NCV) and CMT2 which has normal or near normal NCV with decreased amplitudes. For CMT1, three gene loci (on chromosomes 1, 17 and the X chromosome) have been mapped. The locus...
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