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Noriko Miyake, Shoji Yano, Chika Sakai, Hideyuki Hatakeyama, Yuichi Matsushima, Masaaki Shiina, Yoriko Watanabe, James Bartley, Jose E. Abdenur, Raymond Y. Wang, Richard Chang, Yoshinori Tsurusaki, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Kazuhiro Ogata, Yu-ichi Goto and Naomichi Matsumoto Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation Human Mutation 34

Article first published online: 29 JAN 2013 | DOI: 10.1002/humu.22257

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Whole exome sequencing combined with homozygosity mapping in a consanguineous family revealed that a homozygous missense mutation (p.Arg183Trp) in UQCRC2 causes a novel type of neonatal-onset recurrent metabolic decompensation (hypoglycemia, lactic acidosis, ketosis, and hyperammonemia). UQCRC2 encodes a core protein of complex III and the mutation results in instability of mitochondrial complex III and supercomplex with functional deficiency.

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