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Article

De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome.

Gene - 15 Apr 2023

Lou Xiaoting, Zhou Yuwei, Liu Zhimei, Xie Yaojun, Zhang Luyi, Zhao Suzhou, Gong Shuai, Zhuo Xiuwei, Wang Junling, Dai Lifang, Ren Xiaotun, Tong Xiao, Jiang Liangliang, Fang Hezhi, Fang Fang, Lyu Jianxin

Abstract excerpt

BACKGROUND: The variant m.3571_3572insC/MT-ND1 thus far only reported in oncocytic tumors of different tissues. However, the role of m.3571_3572insC in inherited mitochondrial diseases has yet to be elucidated. METHODS: A patient diagnosed with MELAS syndrome was recruited, and detailed medical records were collected and reviewed. The muscle was biopsied for mitochondrial respiratory chain enzyme activity. Series...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36717040
DOI: 10.1016/j.gene.2023.147229

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