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Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome.

Mitochondrion - 1 Jan 2022

Xu Manting, Kopajtich Robert, Elstner Matthias, Li Hua, Liu Zhimei, Wang Junling, Prokisch Holger, Fang Fang

Abstract excerpt

Leigh syndrome (LS) is one of the most common mitochondrial diseases in children, for which at least 90 causative genes have been identified. However, many LS patients have no genetic diagnosis, indicating that more disease-related genes remain to be identified. In this study, we identified a novel variant, m.3955G > A, in mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 (MT-ND1) in two...

Topics

Electron Transport
Female
Genetic Predisposition to Disease
Humans
Infant
Leigh Disease
Male
Membrane Potential, Mitochondrial
Models, Molecular
Mutation
NADH Dehydrogenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oxygen Consumption

Pedigree

Protein Conformation

Reactive Oxygen Species

Source

Identifiers

PMID: 34656796
DOI: 10.1016/j.mito.2021.10.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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