Article
Leber's hereditary optic neuropathy plus dystonia caused by the mitochondrial ND1 gene m.4160 T > C mutation.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2022
Ren Hong, Lin Yan, Li Ying, Zhang Xiufang, Wang Wei, Xu Xuebi, Ji Kunqian, Zhao Yuying, Yan Chuanzhu
Abstract excerpt
BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a common mitochondrial disease. More than 30 variants in the mitochondrial DNA (mtDNA) have been previously described in LHON. However, the pathogenicity of some variants remains unclear. Herein, we report a 19-year-old boy presenting unique LHON plus dystonia syndrome with the rare m.4136A > G and m.4160 T > C variants and elucidate the molecular...
Topics
- DNA, Mitochondrial
- Dystonia
- Humans
- Mitochondria
- Mutation
- Optic Atrophy, Hereditary, Leber