Leber遗传性视神经病变（Leber's Hereditary Optic Neuropathy，LHON）是一种由线粒体DNA突变引起视神经退行性变的母系遗传性疾病。m.11778G>A(MT-ND4)、m.3460G>A (MT-ND1)和m.14484T>C (MT-ND6)为LHON相关的三个原发突变。本课题组对41个携带m.14484T>C的汉族LHON家系进行临床、遗传及线粒体全基因组分析。结果表明：线粒体单体型M9，M10和N9可能增加携带m.14484T>C汉族LHON家系的外显率和表现度。
Zhang J, Zhao F, Fu Q, Liang M, Tong Y, Liu X, Lin B, Mi H, Zhang M, Wei QP, Xue L, Jiang P, Zhou X, Mo JQ, Huang T, Qu J, Guan MX. Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families. Mitochondrion. 2013 May 9. pii: S1567-7249(13)00076-7. doi: 10.1016/j.mito.2013.05.002. [Epub ahead of print]
