Early onset of Friedreich's ataxia in a compound heterozygote

被引：2

作者：

McGovern, MC

Stewart, M

Morrison, PJ

Webb, D

Hawkins, S

机构：

[1] Craigavon Area Hosp, Portadown BT63 5QQ, Co Armagh, North Ireland

[2] Queens Univ Belfast, Inst Clin Sci, Dept Child Hlth, Belfast BT12 6BJ, Antrim, North Ireland

[3] Queens Univ Belfast, Sch Clin Med, Belfast BT7 1NN, Antrim, North Ireland

[4] Belfast City Hosp, Dept Med Genet, Belfast BT9 7AB, Antrim, North Ireland

[5] Royal Belfast Hosp Sick Children, Dept Paediat Neurol, Belfast BT12 6BE, Antrim, North Ireland

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 2000年 / 83卷 / 01期

关键词：

Friedreich's ataxia; genetics; atypical;

D O I：

10.1136/adc.83.1.74

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：74 / 75

页数：2

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