Homozygous expression of a dominant gene for charcot‐marie‐tooth neuropathy
- 1 June 1979
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 5 (6), 515-522
- https://doi.org/10.1002/ana.410050604
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.This publication has 4 references indexed in Scilit:
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- Lower Motor and Primary Sensory Neuron Diseases With Peroneal Muscular AtrophyArchives of Neurology, 1968
- NERVE CONDUCTION AND OTHER STUDIES IN FAMILIES WITH CHARCOT-MARIE-TOOTH DISEASEBrain, 1964
- Charcot‐Marie‐Tooth diseaseNeurology, 1963