Premium
Homozygous expression of a dominant gene for charcot‐marie‐tooth neuropathy
Author(s) -
Killian James M.,
Kloepfer H. Warner
Publication year - 1979
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410050604
Subject(s) - tooth disease , genetics , gene , medicine , biology
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.