Article
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
American journal of human genetics - 1 Jul 2000
Mersiyanova I V, Perepelov A V, Polyakov A V, Sitnikov V F, Dadali E L, Oparin R B, Petrin A N, Evgrafov O V
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. The axonal form of the disease is designated as "CMT type 2" (CMT2). Although four loci known to be implicated in autosomal dominant CMT2 have been mapped thus far (on 1p35-p36, 3q13. 1, 3q13-q22, and 7p14), no one causative gene is yet known. A large Russian family with CMT2 was found in the Mordovian Republic (Russia)....
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