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莱伯遗传性视神经病变中的预激综合征

Pre-excitation syndrome in Leber's hereditary optic neuropathy.

作者信息

Nikoskelainen E K, Savontaus M L, Huoponen K, Antila K, Hartiala J

机构信息

Department of Ophthalmology, University of Turku, Finland.

出版信息

Lancet. 1994 Sep 24;344(8926):857-8. doi: 10.1016/s0140-6736(94)92830-4.

Abstract

Pre-excitation syndrome is common in families with Leber's hereditary optic neuropathy (LHON). 24 Finnish families with LHON were screened for the 11778 and the 3460 mitochondrial DNA mutations. 5 of 30 individuals with LHON and the 11778 mutation had the Wolff-Parkinson-White pre-excitation syndrome. None of 10 with the 3460 mutation or of 11 with "other" mutations had this syndrome. Overall, 5 of 51 LHON patients and 9 of 112 symptom-free maternal relatives had Wolff-Parkinson-White syndrome (9%). In paternal relatives, the frequency was 1.6%. Mitochondrial DNA causal for LHON may contribute to pre-excitation syndrome.

摘要

预激综合征在患有Leber遗传性视神经病变(LHON)的家族中很常见。对24个患有LHON的芬兰家族进行了11778和3460线粒体DNA突变筛查。30例患有11778突变的LHON患者中有5例患有 Wolff-Parkinson-White预激综合征。10例患有3460突变的患者或11例患有“其他”突变的患者中均无此综合征。总体而言,51例LHON患者中有5例以及112例无症状的母亲亲属中有9例患有Wolff-Parkinson-White综合征(9%)。在父亲亲属中,该频率为1.6%。导致LHON的线粒体DNA可能与预激综合征有关。

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