| Literature DB >> 10869006 |
M C McGovern1, M Stewart, P J Morrison, D Webb, S Hawkins.
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.Entities:
Mesh：
Year: 2000 PMID： 10869006 PMCID： PMC1718374 DOI： 10.1136/adc.83.1.74
Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791