Article
Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.
American journal of medical genetics - 15 Jan 1992
Zhu D P, Economou E P, Antonarakis S E, Maumenee I H
Abstract excerpt
Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder characterized by bilateral acute or subacute loss of central vision, primarily in young males. A G----A single base mutation at 11778nt of the mitochondrial genome which eliminates a SfaNI restriction site [Wallace et al., 1988; Holt et al., 1989; Hotta et al., 1989; Singh et al., 1989; Vilkki et al., 1989; Yoneda et al., 1989; Stone et...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.