Early onset of Friedreich's ataxia in a compound heterozygote. Issue 1 (1st July 2000)

• Record Type: Journal Article
• Authors: McGovern, Mary Claire; Stewart, Moira; Morrison, Patrick J; Webb, David; Hawkins, Stanley
• Is Part Of: Archives of disease in childhood. Volume 83:Issue 1(2000)
• Page Start: 74
• Page End: 75
• Publication Date: 2000-07-01
• Subjects: Friedreich's ataxia -- genetics -- atypical; Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.83.1.74
• Languages: English
• ISSNs: 0003-9888

Abstract

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.