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Article

G6036A substitution in mitochondrial COX I gene compromises cytochrome c oxidase activity in thiamine responsive Leigh syndrome patients.

Journal of the neurological sciences - 15 Aug 2020

Mani Shalini, Rao S Narasimha, Kumar M V Kranthi

Abstract excerpt

Cytochrome c oxidase (COX) deficiency is known to be associated with Leigh syndrome (LS), however there are limited studies on genetic screening of mitochondrial (mt) DNA encoding COX genes as well as the functional validation of identified variants. In our previous studies, we cared for total 165 LS patients and analyzed the nucleotide variations across entire mt genome. We observed a high level of genetic...

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Identifiers

PMID: 32428756
DOI: 10.1016/j.jns.2020.116870

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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