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

Mol Genet Metab Rep. 2019 Nov 6:21:100528. doi: 10.1016/j.ymgmr.2019.100528. eCollection 2019 Dec.

Authors

Giulia Barcia^{1

2}, Zahra Assouline^{1

2}, Alessandra Pennisi^{1

2}, Cyril Gitiaux^{1

2}, Manuel Schiff^{1

2}, Nathalie Boddaert^{1

2}, Arnold Munnich^{1

2}, Jean-Paul Bonnefont^{1

2}, Agnès Rötig^{1

2}

Affiliations

¹ Fédération de Génétique Médicale, Hôpital Necker Enfants Malades, Paris, France.
² UMR1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France.

No abstract available