Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci.
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.
Kochanski
A
A
Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Pawińskiego 5, 02-106 Warsaw, Poland. andko@cmdik.pan.pl
Kennerson
M
M
Kawulak
M
M
Ryniewicz
B
B
Rowinska-Marcinska
K
K
Walizada
G
G
Nowakowski
A
A
Hausmanowa-Petrusewicz
I
I
Nicholson
G A
GA
D000200:Action Potentials; D000293:Adolescent; D017668:Age of Onset; D001369:Axons / Q000473:pathology; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009431:Neural Conduction; D010375:Pedigree; D010641:Phenotype; D011044:Poland / Q000453:epidemiology; D011930:Reaction Time