首例被诊断为细胞色素c氧化酶缺乏的 Leigh 综合征患者：进展报告。
The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.
作者信息
Coenen M J H, Smeitink J A M, Farhoud M H, Nijtmans L G J, Rodenburg R, Janssen A, van Kaauwen E P M, Trijbels F J M, van den Heuvel L P
机构信息
Nijmegen Centre for Mitochondrial Disorder, Radboud University Nijmegen Medical Centre, The Netherlands.
出版信息
J Inherit Metab Dis. 2006 Feb;29(1):212-3. doi: 10.1007/s10545-006-0185-3.
Mutations in SURF1, an assembly gene for cytochrome c oxidase (COX), the fourth complex of the oxidative phosphorylation system, are most frequently encountered in patients with COX deficiency. We describe a patient with Leigh syndrome harbouring a mutation in SURF1 who was reported decades ago with a tissue-specific cytochrome c oxidase deficiency.
SURF1是氧化磷酸化系统第四复合物细胞色素c氧化酶（COX）的组装基因，其突变在细胞色素c氧化酶缺乏症患者中最为常见。我们描述了一名患有Leigh综合征的患者，其SURF1基因存在突变，该患者在数十年前就被报道患有组织特异性细胞色素c氧化酶缺乏症。
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