Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci

A. Kochański*, M. Kennerson, M. Kawulak, B. Ryniewicz, K. Rowińska-Marcińska, G. Walizada, A. Nowakowski, I. Hausmanowa-Petrusewicz, G. A. Nicholson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

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 CMT2 disease.

Original languageEnglish
Pages (from-to)533-535
Number of pages3
JournalNeurology
Volume64
Issue number3
Publication statusPublished - 8 Feb 2005
Externally publishedYes

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