1.
Neurology
; 64(3): 533-5, 2005 Feb 08.
Article
in English
| MEDLINE
| ID: mdl-15699389
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.
Subject(s)
Charcot-Marie-Tooth Disease/genetics , Genetic Heterogeneity , Action Potentials , Adolescent , Age of Onset , Axons/pathology , Charcot-Marie-Tooth Disease/classification , Charcot-Marie-Tooth Disease/epidemiology , Child , DNA Mutational Analysis , Disease Progression , Female , Genes, Dominant , Genetic Linkage , Humans , Male , Neural Conduction , Pedigree , Phenotype , Poland/epidemiology , Reaction Time
2.
Neurology
; 62(2): 336-7, 2004 Jan 27.
Article
in English
| MEDLINE
| ID: mdl-14745088
