Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction

K Thompson, N Mai, M Olahova, F Scialo, LE Formosa, DA Stroud, M Garett, NZ Lax, C Jou, A Nascimento, C Ortez, C Jimenez-Mallabrera, SA Hardy, L He, GK Brown, P Marttinen, R McFarland, A Sanz, BJ Battersby, PE Bonnen Show all