A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
Year: 2023
Type: article
Study design: Case Report
Authors: Dario Ronchi, Manuela Garbellini, Francesca Magri, Francesca Menni, Megi Meneri, Maria Francesca Bedeschi, Robertino Dilena, Valeria Cecchetti, Irene Picciolli, Francesca Furlan, Valentina Polimeni, Sabrina Salani, Laura Pezzoli, Francesco Fortunato, Matteo Bellini, Daniela Piga, Michela Ripolone, Simona Zanotti, Laura Napoli, Patrizia Ciscato, Monica Sciacco, Giovanna Mangili, Fabio Mosca, Stefania Corti, Maria Iascone, Giacomo Pietro Comi
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
Funder: Ministero della Salute
OpenAlex ID: W4384819059