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Early onset of Friedreich's ataxia in a compound heterozygote.
Arch Dis Child. 2000 Jul; 83(1):74-5.AD

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.

Authors+Show Affiliations

Craigavon Area Hospital, 68 Lurgan Road, Portadown, Co. Armagh BT63 5QQ, Northern Ireland, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10869006

Citation

McGovern, M C., et al. "Early Onset of Friedreich's Ataxia in a Compound Heterozygote." Archives of Disease in Childhood, vol. 83, no. 1, 2000, pp. 74-5.
McGovern MC, Stewart M, Morrison PJ, et al. Early onset of Friedreich's ataxia in a compound heterozygote. Arch Dis Child. 2000;83(1):74-5.
McGovern, M. C., Stewart, M., Morrison, P. J., Webb, D., & Hawkins, S. (2000). Early onset of Friedreich's ataxia in a compound heterozygote. Archives of Disease in Childhood, 83(1), 74-5.
McGovern MC, et al. Early Onset of Friedreich's Ataxia in a Compound Heterozygote. Arch Dis Child. 2000;83(1):74-5. PubMed PMID: 10869006.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Early onset of Friedreich's ataxia in a compound heterozygote. AU - McGovern,M C, AU - Stewart,M, AU - Morrison,P J, AU - Webb,D, AU - Hawkins,S, PY - 2000/6/27/pubmed PY - 2000/8/29/medline PY - 2000/6/27/entrez SP - 74 EP - 5 JF - Archives of disease in childhood JO - Arch Dis Child VL - 83 IS - 1 N2 - 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. SN - 1468-2044 UR - https://www.unboundmedicine.com/medline/citation/10869006/Early_onset_of_Friedreich's_ataxia_in_a_compound_heterozygote_ L2 - https://adc.bmj.com/lookup/pmidlookup?view=long&pmid=10869006 DB - PRIME DP - Unbound Medicine ER -