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 language | English |
---|---|
Pages (from-to) | 533-535 |
Number of pages | 3 |
Journal | Neurology |
Volume | 64 |
Issue number | 3 |
Publication status | Published - 8 Feb 2005 |
Externally published | Yes |