Homozygote for Huntington disease - PubMed (original) (raw)
Comparative Study
Homozygote for Huntington disease
R H Myers et al. Am J Hum Genet. 1989 Oct.
Abstract
Four offspring of three different Huntington disease (HD) affected x affected matings were assessed by genetic linkage analysis for possible homozygosity. One individual was found to have a 95% likelihood of being an HD homozygote. The homozygote individual had an age at onset and symptoms which were similar to those of affected HD heterozygote relatives, including some with younger onset. This confirms the observation of Wexler et al. that in HD the homozygote is not more severely afflicted than the heterozygote.
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References
- Lancet. 1972 Jul 8;2(7767):53-5 - PubMed
- Acta Genet Stat Med. 1957;7(2):321-5 - PubMed
- Clin Genet. 1973;4(3):173-185 - PubMed
- J Med Genet. 1973 Dec;10(4):333-6 - PubMed
- Lancet. 1977 Dec 24-31;2(8052-8053):1348-9 - PubMed
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