Giant SCA8 alleles in nine children whose mother has two moderately large ones

被引：10

作者：

Corral, J

Genís, D

Banchs, I

San Nicolás, H

Armstrong, J

Volpini, V ^{[1
]}

机构：

[1] Hosp Duran & Reynals, Ctr Genet Med & Mol, Inst Recerca Oncol, IDIBELL, Barcelona 08907, Spain

[2] Hosp Josep Trueta, Unita Neurol, Girona, Spain

[3] Ciutat Sanit & Univ Bellvitge, Unitat Neuropatol, Barcelona, Spain

来源：

ANNALS OF NEUROLOGY | 2005年 / 57卷 / 04期

关键词：

D O I：

10.1002/ana.20421

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report here a family in which each of nine children has inherited giant SCA8 CTG expansions from a homozygous mother who has two moderately large SCA8 CTG alleles. In contrast, three homozygous male individuals and a case of coexistence of two expansions of the FRDA gene and one of SCA8, all of them with moderately large alleles, have transmitted their respective SCA8 expanded alleles with minor changes, as usually occurs in heterozygous male transmissions.

引用

收藏

页码：549 / 553

页数：5

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