散发性异质性单5.5kb线粒体DNA缺失与小脑共济失调、低促性腺激素性性腺功能减退、脉络膜营养不良和线粒体呼吸链复合体I缺乏相关。
Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.
作者信息
Barrientos A, Casademont J, Genís D, Cardellach F, Fernández-Real J M, Grau J M, Urbano-Márquez A, Estivill X, Nunes V
机构信息
Department of General Internal Medicine, Hospital Clínic i Provincial, University of Barcelona, Spain.
出版信息
Hum Mutat. 1997;10(3):212-6. doi: 10.1002/(SICI)1098-1004(1997)10:3<212::AID-HUMU6>3.0.CO;2-K.
Abstract
This report describes a patient with cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy, associated with mitochondrial respiratory chain complex I deficiency and a 5.5 kb mtDNA single deletion in skeletal muscle.
摘要
本报告描述了一名患有小脑共济失调、低促性腺激素性性腺功能减退和脉络膜视网膜营养不良的患者，其与线粒体呼吸链复合体I缺陷以及骨骼肌中一个5.5 kb的线粒体DNA单缺失相关。
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