'Pseudo-dominant' inheritance in Friedreich's ataxia.
- 1 August 1981
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 18 (4) , 285-287
- https://doi.org/10.1136/jmg.18.4.285
Abstract
A family is described in which Friedreich's ataxia occurred in two generations. It is proposed that this resulted from a homozygote-heterozygote mating. The heterozygote frequency for the Friedreich's ataxia gene is in the order of 1 in 110, so the likelihood of the disease developing in an individual child of a patient is 1 in 220. This risk is probably higher than that often assumed when counselling patients with this disorder.This publication has 6 references indexed in Scilit:
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