Ontology highlight
ABSTRACT:
SUBMITTER: Kohda M
PROVIDER: S-EPMC4704781 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Kohda Masakazu M Tokuzawa Yoshimi Y Kishita Yoshihito Y Nyuzuki Hiromi H Moriyama Yohsuke Y Mizuno Yosuke Y Hirata Tomoko T Yatsuka Yukiko Y Yamashita-Sugahara Yzumi Y Nakachi Yutaka Y Kato Hidemasa H Okuda Akihiko A Tamaru Shunsuke S Borna Nurun Nahar NN Banshoya Kengo K Aigaki Toshiro T Sato-Miyata Yukiko Y Ohnuma Kohei K Suzuki Tsutomu T Nagao Asuteka A Maehata Hazuki H Matsuda Fumihiko F Higasa Koichiro K Nagasaki Masao M Yasuda Jun J Yamamoto Masayuki M Fushimi Takuya T Shimura Masaru M Kaiho-Ichimoto Keiko K Harashima Hiroko H Yamazaki Taro T Mori Masato M Murayama Kei K Ohtake Akira A Okazaki Yasushi Y
PLoS genetics 20160107 1
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 that cause mitochondrial disorders have been reported to date. However exact genetic ...[more]