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Early onset of Friedreich's ataxia in a compound heterozygote
  1. Mary Claire McGoverna,
  2. Moira Stewartb,
  3. Patrick J Morrisond,
  4. David Webbe,
  5. Stanley Hawkinsc
  1. aCraigavon Area Hospital, 68 Lurgan Road, Portadown, Co. Armagh BT63 5QQ, Northern Ireland, UK, bDepartment of Child Health, Institute of Clinical Science, Queen's University of Belfast, Grovesnor Road, Belfast BT12 6BJ, Northern Ireland, UK, cSchool of Clinical Medicine, Queen's University of Belfast, dDepartment of Medical Genetics, Belfast City Hospital, Belfast BT9 7AB, Northern Ireland, UK, eDepartment of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast BT12 6BE, Northern Ireland, UK
  1. Dr McGovern

Abstract

Friedreich's ataxia (FA) is an autosomal recessive condition caused by a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9. We describe an unusual form of “pseudodominant” inheritance to illustrate how a diagnosis of FA in a parent does not preclude the diagnosis in the child.

  • Friedreich's ataxia
  • genetics
  • atypical

https://doi.org/10.1136/adc.83.1.74

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