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Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies.

Journal of the neurological sciences - 15 Feb 2024

Citrigno Luigi, Qualtieri Antonio, Cerantonio Annamaria, De Benedittis Selene, Gallo Olivier, Di Palma Gemma, Spadafora Patrizia, Cavalcanti Francesca

Abstract excerpt

Mitochondrial DNA (mtDNA) is a 16,569 base pairs, double-stranded, circular molecule that contains 37 genes coding for 13 subunits of the respiratory chain plus 2 rRNAs and 22 tRNAs. Mutations in these genes have been identified in patients with a variety of disorders affecting every system in the body. The advent of next generation sequencing technologies has provided the possibility to perform the whole...

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PMID: 38215527
DOI: 10.1016/j.jns.2024.122869

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