Article
A novel m.11406 T > A mutation in mitochondrial ND4 gene causes MELAS syndrome.
Mitochondrion - 1 Sept 2020
Lin Yan, Xu Xuebi, Zhao Dandan, Liu Fuchen, Luo Yuebei, Du Jixiang, Wang Dongdong, Ji Kunqian, Zhao Yuying, Yan Chuanzhu
Abstract excerpt
Pathogenic point mutations of mitochondrial DNA (mtDNA) are associated with a large number of heterogeneous diseases involving multiple systems with which patients may present with a wide range of clinical phenotypes. In this study, we describe a novel heteroplasmic missense mutation, m.11406 T > A, of the ND4 gene encoding the subunit 4 of mitochondrial complex I in a 32-year-old woman with recurrent epileptic...
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