1.
Neurology
; 65(3): 496-7, 2005 Aug 09.
Article
in English
| MEDLINE
| ID: mdl-16087932
Subject(s)
Charcot-Marie-Tooth Disease/genetics , Genetic Predisposition to Disease/genetics , Membrane Proteins/genetics , Mitochondrial Proteins/genetics , Mutation/genetics , Adult , Aged , Amino Acid Substitution/genetics , Charcot-Marie-Tooth Disease/physiopathology , Child , Chromosome Mapping , DNA Mutational Analysis , Family Health , Female , GTP Phosphohydrolases , Genetic Testing , Genetic Variation/genetics , Genotype , Humans , Kinesins/genetics , Male , Movement Disorders/genetics , Nerve Tissue Proteins/genetics , Phenotype , Point Mutation/genetics , Polymorphism, Single Nucleotide/genetics , Pyramidal Tracts/pathology , Pyramidal Tracts/physiopathology
2.
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.