Torbergsen T, Mathiesen E, Aasly J
Department of Neurology, University Hospital, Tromsö, Norway.
J Neurol Neurosurg Psychiatry. 1991 Dec;54(12):1073-6. doi: 10.1136/jnnp.54.12.1073.
In a large family with maternally inherited mitochondrial disease, a mild defect in the NADH-ubiquinone oxidoreductase step (complex 1) in the respiratory chain was found. Epilepsy was seen in nine (22%) of the 37 family members. Five of them, belonging to one branch of the family, had myoclonus epilepsy and EEG abnormalities consistent with this. The remaining four patients, belonging to other branches of the family tree, had partial epilepsy. Neurological symptoms also varied in different parts of the family. Possible explanations for the differences in phenotypic expressions are discussed.
在一个患有母系遗传线粒体疾病的大家庭中，发现呼吸链中烟酰胺腺嘌呤二核苷酸-泛醌氧化还原酶步骤（复合体1）存在轻度缺陷。37名家庭成员中有9人（22%）出现癫痫。其中5人属于家族的一个分支，患有肌阵挛性癫痫且脑电图异常与之相符。其余4名患者属于家族树的其他分支，患有部分性癫痫。家族不同成员的神经症状也有所不同。文中讨论了表型表达差异的可能解释。
