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Article

A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review.

European journal of medical genetics - 1 May 2021

Galvão de Oliveira Manuella, Tengan Célia, Micheletti Cecília, Ramos de Macedo Paloma, Soares Pinho Cernach Mirlene Cecília, Cavole Thiago Rodrigues, de França Basto Marina, Filho Joselito Sobreira, Virmond Luiza Amaral, Milanezi Fernanda, Nakano Viviane, Falconi Ariane, Perrone Eduardo

Abstract excerpt

The cytochrome c-oxidase (COX) enzyme, also known as mitochondrial complex IV (MT-C4D), is a transmembrane protein complex found in mitochondria. COX deficiency is one of the most frequent causes of electron transport chain defects in humans. Therefore, high energy demand organs and tissues are affected in patients with mutations in the COX15 gene, with variable phenotypic expressiveness. We describe the case of...

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Share to Cardiomyopathy, Hypertrophic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33746038
DOI: 10.1016/j.ejmg.2021.104195

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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