High incidence of spinal muscular atrophy type I (Werdnig ‐ Hoffmann disease) in the Karaite community in Israel
- 1 October 1977
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 12 (4) , 250-251
- https://doi.org/10.1111/j.1399-0004.1977.tb00934.x
Abstract
Spinal muscular atrophy (S.M.A.) type I (Infantile Werdnig - Hoffmann Disease) was found in 4:1,600 (1:400) infants of the Egyptian Karaite community. This group constitutes a representative sample of the Egyptian Karaite community in Israel, which numbers at present somewhat more than 7,000. The community existed as a religious and reproductive isolate for over 10 centuries. The very high gene frequency, 0.05 for the autosomal recessive gene of S.M.A. type I, is probably the result of genetic drift.This publication has 2 references indexed in Scilit:
- The nosology of the spinal muscular atrophies.Journal of Medical Genetics, 1971
- Spinal muscular atrophy type IIClinical Genetics, 1971