Early onset of Friedreich's ataxia in a compound heterozygote.

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.

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Cite this paper

@article{McGovern2000EarlyOO, title={Early onset of Friedreich's ataxia in a compound heterozygote.}, author={Mary C McGovern and Moira C Stewart and P. Jason Morrison and Delyth Webb and Sarah Hawkins}, journal={Archives of disease in childhood}, year={2000}, volume={83 1}, pages={74-5} }