Citation
Mc. Mcgovern et al., Early onset of Friedreich's ataxia in a compound heterozygote, ARCH DIS CH, 83(1), 2000, pp. 74-75
Citations number
6
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
ARCHIVES OF DISEASE IN CHILDHOOD
ISSN journal
00039888
→ ACNP
Volume
83
Issue
1
Year of publication
2000
Pages
74 - 75
Database
ISI
SICI code
0003-9888(200007)83:1<74:EOOFAI>2.0.ZU;2-E
Abstract
Friedreich's ataxia (FA) is an autosomal recessive condition caused by a GA
A trinucleotide repeat expansion in the X25 gene on chromosome 9. We descri
be an unusual form of "pseudodominant" inheritance to illustrate how a diag
nosis of FA in a parent does not preclude the diagnosis in the child.