Ontology highlight
ABSTRACT:
SUBMITTER: Qu J
PROVIDER: S-EPMC2014724 | biostudies-other | 2007 Feb-Apr
REPOSITORIES: biostudies-other
Qu Jia J Li Ronghua R Zhou Xiangtian X Tong Yi Y Yang Li L Chen Jie J Zhao Fuxing F Lu Chunjie C Qian Yaping Y Lu Fan F Guan Min-Xin MX
Mitochondrion 20061208 1-2
We report here the characterization of a four-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON). This Chinese family exhibited a variable severity and age-at-onset of visual loss. Notably, the average age-at-onset of vision impairment changed from 26 years (generation III) to 14 years (generation IV), with the average of 18 years in this family. In addition, 30% and 50% of matrilineal relatives in generation III and IV of this family developed visual loss with a varia ...[more]