Article
m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.
Cold Spring Harbor molecular case studies - 1 Feb 2022
Jean Jeffrey, Christodoulou Eirini, Gai Xiaowu, Tamrazi Benita, Vera Moin, Mitchell Wendy G, Schmidt Ryan J
Abstract excerpt
Variants in the mitochondrial genome can result in dysfunction of Complex I within the electron transport chain, thus causing disruptions in oxidative phosphorylation. Pathogenic variants in the MT-ND1 (NADH:ubiquinone oxidoreductase core subunit 1) gene that result in Complex I dysfunction are a known cause of Leigh syndrome. The patient is a 4-yr-old female who initially presented with generalized tonic-clonic...
Topics
- DNA, Mitochondrial
- Female
- Humans
- Lactic Acid
- Leigh Disease
- Mitochondrial Diseases
- Mutation
- Seizures