A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood

by Hongyan Bi, Hui Guo, Qianfei Wang, Xiao Zhang, Yaming Zhao, Jimei Li, Weiqin Zhao, Houzhen Tuo, Yongbo Zhang
Published 2021-06-01

Novel <i>NDUFA13</i> Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report

by Adrián González-Quintana, Inés García-Consuegra, Amaya Belanger-Quintana, Pablo Serrano-Lorenzo, Alejandro Lucia, Alberto Blázquez, Jorge Docampo, Cristina Ugalde, María Morán, Joaquín Arenas, Miguel A. Martín
Published 2020-07-01