Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, 50013-Zaragoza.
Hum Mutat. 2008 Aug;29(8):E112-22. doi: 10.1002/humu.20800.
A disorder of mitochondrial energy metabolism may be missed in children with a very mild phenotype. Here, we described a patient with a moderate mental retardation and a mild exercise intolerance. This child harboured a mtDNA transition (m.6955G>A) in the subunit I of the cytochrome oxidase (MT-CO1) that fulfils most of the requirements to be pathologic. Despite this subunit is the second longest polypeptide encoded in the mtDNA, only one other missense mutation associated with a myopathy has been described. This suggests that we are missing other phenotypes and that the mitochondrial pathology field is broader that previously thought.
线粒体能量代谢紊乱在表型非常轻微的儿童中可能被漏诊。在这里，我们描述了一名患有中度智力障碍和轻度运动不耐受的患儿。该患儿携带细胞色素氧化酶亚单位 I（MT-CO1）mtDNA 转移（m.6955G>A），符合大多数病理要求。尽管该亚基是 mtDNA 中编码的第二长多肽，但仅描述了与肌病相关的另一个错义突变。这表明我们还存在其他表型，并且线粒体病理学领域比以前认为的更广泛。
