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  • Title: Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy.
    Author: Killian JM, Kloepfer HW.
    Journal: Ann Neurol; 1979 Jun; 5(6):515-22. PubMed ID: 475348.
    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.
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