与TTC19相关的线粒体复合物III缺乏症:来自5个无关阿拉伯家庭的10名患者的临床和遗传特征

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Malak Alghamdi1, Ahmad Alahmad2, Malak Alaboudi3

  • 1Division of Medical Genetics, Department of Pediatrics, King Saud University, College of Medicine, Riyadh, Saudi Arabia; Department of Pediatrics, King Saud University Medical City Riyadh, Saudi Arabia.

Molecular genetics and metabolism
|March 12, 2026
PubMed
概括

四重复域19 (TTC19) 基因中的致病变体导致线粒体复合体III缺乏,导致渐进的神经退行. 这项研究在阿拉伯家庭中发现了三种新的TTC19变异,扩大了这种罕见遗传疾病的范围.

关键词:
过敏症 过敏症 过敏症 过敏症认知回归是一种认知回归.线粒体复合体III缺乏症线粒体呼吸链复合物III 线粒体呼吸链复合物III核类型 2 (MC3DN2) 的核.渐进性神经退行性障碍是一种进展性神经退行性障碍.三 19 (TTC19) 基因 基因

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