Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation

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; Naomichi Matsumoto

doi:10.1002/humu.22257

Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation

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
, Naomichi Matsumoto

Pediatric Genetics Division

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	446-452
Number of pages	7
Journal	Human Mutation
Volume	34
Issue number	3
DOIs	https://doi.org/10.1002/humu.22257
State	Published - Mar 2013

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

Keywords

Mitochondrial complex III (CIII)
Supercomplex
UQCRC2
Whole exome sequence

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10.1002/humu.22257

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Miyake, N., Yano, S., Sakai, C., Hatakeyama, H., Matsushima, Y., Shiina, M., Watanabe, Y., Bartley, J., Abdenur, J. E., Wang, R. Y., Chang, R., Tsurusaki, Y., Doi, H., Nakashima, M., Saitsu, H., Ogata, K., Goto, Y. I., & Matsumoto, N. (2013). Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation. Human Mutation, 34(3), 446-452. https://doi.org/10.1002/humu.22257

Miyake, N, Yano, S, Sakai, C, Hatakeyama, H, Matsushima, Y, Shiina, M, Watanabe, Y, Bartley, J, Abdenur, JE, Wang, RY, Chang, R, Tsurusaki, Y, Doi, H, Nakashima, M, Saitsu, H, Ogata, K, Goto, YI & Matsumoto, N 2013, 'Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation', Human Mutation, vol. 34, no. 3, pp. 446-452. https://doi.org/10.1002/humu.22257

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title = "Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation",

keywords = "Mitochondrial complex III (CIII), Supercomplex, UQCRC2, Whole exome sequence",

author = "Noriko Miyake and Shoji Yano and Chika Sakai and Hideyuki Hatakeyama and Yuichi Matsushima and Masaaki Shiina and Yoriko Watanabe and James Bartley and Abdenur, \{Jose E.\} and Wang, \{Raymond Y.\} and Richard Chang and Yoshinori Tsurusaki and Hiroshi Doi and Mitsuko Nakashima and Hirotomo Saitsu and Kazuhiro Ogata and Goto, \{Yu Ichi\} and Naomichi Matsumoto",

year = "2013",

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AU - Miyake, Noriko

AU - Yano, Shoji

AU - Sakai, Chika

AU - Hatakeyama, Hideyuki

AU - Matsushima, Yuichi

AU - Shiina, Masaaki

AU - Watanabe, Yoriko

AU - Bartley, James

AU - Abdenur, Jose E.

AU - Wang, Raymond Y.

AU - Chang, Richard

AU - Tsurusaki, Yoshinori

AU - Doi, Hiroshi

AU - Nakashima, Mitsuko

AU - Saitsu, Hirotomo

AU - Ogata, Kazuhiro

AU - Goto, Yu Ichi

AU - Matsumoto, Naomichi

PY - 2013/3

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KW - Mitochondrial complex III (CIII)

KW - Supercomplex

KW - UQCRC2

KW - Whole exome sequence

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SN - 1059-7794

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JO - Human Mutation

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ER -

Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation

ASJC Scopus Subject Areas

Keywords

Access to Document

OpenUrl availability

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