Ontology highlight
ABSTRACT:
SUBMITTER: Zhao F
PROVIDER: S-EPMC2785001 | biostudies-literature | 2009 Nov
REPOSITORIES: biostudies-literature
Zhao Fuxin F Guan Minqiang M Zhou Xiangtian X Yuan Meixia M Liang Ming M Liu Qi Q Liu Yan Y Zhang Yongmei Y Yang Li L Tong Yi Y Wei Qi-Ping QP Sun Yan-Hong YH Qu Jia J Guan Min-Xin MX
Biochemical and biophysical research communications 20090902 3
We report here the clinical, genetic, and molecular characterization of three Chinese families with Leber's hereditary optic neuropathy (LHON). There were variable severity and age of onset in visual impairment among these families. Strikingly, there were extremely low penetrances of visual impairment in these Chinese families. Sequence analysis of complete mitochondrial genomes in these pedigrees showed the homoplasmic T14502C (I58V) mutation, which localized at a highly conserved isoleucine at ...[more]