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

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

European Journal of Medical Genetics（2021）

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Abstract
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.
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Key words
Cytochrome c oxidase,COX15,Complex IV,Hypertrophic cardiomyopathy,Hyperlacticaemia
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