PT  - JOURNAL ARTICLE
AU  - Harding, A E
AU  - Zilkha, K J
TI  - 'Pseudo-dominant' inheritance in Friedreich's ataxia.
AID  - 10.1136/jmg.18.4.285
DP  - 1981 Aug 01
TA  - Journal of Medical Genetics
PG  - 285--287
VI  - 18
IP  - 4
4099  - http://jmg.bmj.com/content/18/4/285.short
4100  - http://jmg.bmj.com/content/18/4/285.full
SO  - J Med Genet1981 Aug 01; 18
AB  - 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.