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中英关联术语

雷伯氏遗传性视神经萎缩症

Optic Atrophy, Hereditary, Leber

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A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))

中文名称索引;定义为 MeSH 英文原文,尚未逐条译审。MESH:D029242 · MeSH 2026。

Courtesy of the U.S. National Library of Medicine. Annual snapshot; later updates may not be reflected. NLM does not endorse this service.

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