Article
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
European journal of human genetics : EJHG - 1 Dec 2023
Ronchi Dario, Garbellini Manuela, Magri Francesca, Menni Francesca, Meneri Megi, Bedeschi Maria Francesca, Dilena Robertino, Cecchetti Valeria, Picciolli Irene, Furlan Francesca, Polimeni Valentina, Salani Sabrina, Pezzoli Laura, Fortunato Francesco, Bellini Matteo, Piga Daniela, Ripolone Michela, Zanotti Simona, Napoli Laura, Ciscato Patrizia, Sciacco Monica, Mangili Giovanna, Mosca Fabio, Corti Stefania, Iascone Maria, Comi Giacomo Pietro
Abstract excerpt
Pathogenic variants impacting upon assembly of mitochondrial respiratory chain Complex IV (Cytochrome c Oxidase or COX) predominantly result in early onset mitochondrial disorders often leading to CNS, skeletal and cardiac muscle manifestations. The aim of this study is to describe a molecular defect in the COX assembly factor gene COX18 as the likely cause of a neonatal form of mitochondrial...
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