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Early onset of Friedreich's ataxia in a compound heterozygote
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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
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