Homozygous expression of a dominant gene for charcot‐marie‐tooth neuropathy

Abstract

Abstract 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.