Early onset of Friedreich's ataxia in a compound heterozygote.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 10869006.
- Also identified by PMC identifier 1718374.
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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.
Medical subject headings
- Friedreich Ataxia
- Heterozygote
- Trinucleotide Repeat Expansion