Melberg Atle, Moslemi Ali-Reza, Palm Oscar, Raininko Raili, Stålberg Erik, Oldfors Anders
Department of Neuroscience, University Hospital, Uppsala, Sweden.
Eur J Med Genet. 2009 Jan-Feb;52(1):47-8. doi: 10.1016/j.ejmg.2008.10.004. Epub 2008 Nov 5.
We report a 22-year-old man with PEO and optic atrophy. PEO developed before the onset of optic atrophy. The patient showed mitochondrial myopathy with cytochrome c oxidase deficient fibers. In skeletal muscle the patient was homoplasmic for the mtDNA G11778A Leber hereditary optic neuropathy (LHON) mutation and heteroplasmic for the mtDNA 5 kb "common" deletion mutation. In blood only the homoplasmic LHON mutation was identified. The occurrence of two pathogenic mtDNA mutations is exceedingly rare. The clinical findings in this patient indicate that the combination of the two mtDNA mutations resulted in the expected combined phenotype since the mtDNA deletion mutation accounted for the PEO and the mtDNA G11778A point mutation for the optic atrophy.
我们报告了一名患有进行性眼外肌麻痹（PEO）和视神经萎缩的22岁男性。PEO在视神经萎缩发作之前就已出现。该患者表现出线粒体肌病，伴有细胞色素c氧化酶缺乏纤维。在骨骼肌中，患者的线粒体DNA（mtDNA）G11778A Leber遗传性视神经病变（LHON）突变是纯合子，而mtDNA 5 kb“常见”缺失突变是杂合子。在血液中仅鉴定出纯合的LHON突变。两种致病性mtDNA突变的发生极为罕见。该患者的临床发现表明，由于mtDNA缺失突变导致了PEO，而mtDNA G11778A点突变导致了视神经萎缩，这两种mtDNA突变的组合产生了预期的联合表型。
