Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy

Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Giulia Barcia, Zahra Assouline, Alessandra Pennisi, Cyril Gitiaux, Manuel Schiff, Nathalie Boddaert, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig

Source: Molecular Genetics and Metabolism Reports - November 7, 2019 Category: Genetics & Stem Cells Source Type: research