期刊
ORL-JOURNAL FOR OTO-RHINO-LARYNGOLOGY AND ITS RELATED SPECIALTIES
卷 62, 期 2, 页码 100-103出版社
KARGER
DOI: 10.1159/000027725
关键词
mitochondrial DNA; sensorineural hearing loss; 1555 point mutation; aminoglycoside
We report on a family with maternally inherited sensorineural hearing loss, in which no history of aminoglycoside injection and no other specific etiology could be identified in any member. A 1555 A-to-G mutation of mitochondrial DNA was found in all members demonstrating hearing loss. The hearing in the propositus and his sister was severely impaired at a younger age than that in the mother. This case suggests that the 1555 point mutation of mitochondrial DNA has potential to promote inherited nonsyndromic hearing loss without any known etiology. Copyright (C) 2000 S. Karger AG, Basel.
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