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Research Article
'Pseudo-dominant' inheritance in Friedreich's ataxia.
  1. A E Harding,
  2. K J Zilkha

    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.

    https://doi.org/10.1136/jmg.18.4.285

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