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Article

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

PLoS genetics - 1 Jan 2016

Kohda Masakazu, Tokuzawa Yoshimi, Kishita Yoshihito, Nyuzuki Hiromi, Moriyama Yohsuke, Mizuno Yosuke, Hirata Tomoko, Yatsuka Yukiko, Yamashita-Sugahara Yzumi, Nakachi Yutaka, Kato Hidemasa, Okuda Akihiko, Tamaru Shunsuke, Borna Nurun Nahar, Banshoya Kengo, Aigaki Toshiro, Sato-Miyata Yukiko, Ohnuma Kohei, Suzuki Tsutomu, Nagao Asuteka, Maehata Hazuki, Matsuda Fumihiko, Higasa Koichiro, Nagasaki Masao, Yasuda Jun, Yamamoto Masayuki, Fushimi Takuya, Shimura Masaru, Kaiho-Ichimoto Keiko, Harashima Hiroko, Yamazaki Taro, Mori Masato, Murayama Kei, Ohtake Akira, Okazaki Yasushi

Abstract excerpt

Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic and genetic heterogeneity. Mutations in about 1,500 nuclear encoded mitochondrial proteins may cause mitochondrial dysfunction of energy production and mitochondrial disorders. More than 250 genes...

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Identifiers

PMID: 26741492
DOI: 10.1371/journal.pgen.1005679
PMCID: PMC4704781

Genes

MECP2
MRPS23
PNPLA4
QRSL1
TNNI3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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