Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy.
| Autor: | Killian JM, Kloepfer HW |
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| Jazyk: | angličtina |
| Zdroj: | Annals of neurology [Ann Neurol] 1979 Jun; Vol. 5 (6), pp. 515-22. |
| DOI: | 10.1002/ana.410050604 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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