Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy.
A kindred of 68 French Acadians who were heterozygous for a dominant gene of Charcot-Marie-Tooth disease associated with peripheral nerve hypertrophy are described. Marriage between 2 heterozygotes resulted in 2 homozygous offspring. Clinical features of the homozygotes were similar to the classic description of Dejerine-Sottas disease. Laboratory studies in this family revealed no chemical, metabolic, or chromosomal abnormalities in either the homozygotes or the heterozygotes.
D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics*; D009431:Neural Conduction