刊名:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
出版年:2017
出版时间:January 2017
年:2017
卷:1863
期:1
页码:182-187
全文大小:654 K
卷排序:1863
文摘
A novel mutation in the MT-ND1 gene (m.3634A>G) in a patient with LHON syndrome. The mutation affected a conserved nucleotide and amino acid. Pathogenic mutation in the same amino acid was previously reported in a LHON patient. The mutation is not recorded in the Mitomap or Human Mitochondrial Genome Database. m.3634A>G cybrids showed OXPHOS system impairment (CI activity, cell proliferation).