Article
Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci.
Neurology - 8 Feb 2005
Kochanski A, Kennerson M, Kawulak M, Ryniewicz B, Rowinska-Marcinska K, Walizada G, Nowakowski A, Hausmanowa-Petrusewicz I, Nicholson G A
Abstract excerpt
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2) is a heterogeneous group of disorders with seven chromosomal loci mapped in the uncomplicated forms of CMT2. The authors report clinical, electrophysiologic, and genetic analysis of a Polish CMT2 family. Nine known CMT2 gene loci and one MPZ gene locus have been excluded. The authors' findings suggest that this family represents a novel form of...
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