Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes

Mitochondrial disorders are a group of clinically and genetically heterogeneous multisystem disorders and peripheral neuropathy is frequently described in the context of mutations in mitochondrial-related nuclear genes. This study aimed to identify the causative mutations in mitochondrial-related nu...

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Veröffentlicht in:	Journal of neurology 2022-08, Vol.269 (8), p.4129-4140
Hauptverfasser:	Hiramatsu, Yu, Okamoto, Yuji, Yoshimura, Akiko, Yuan, Jun-Hui, Ando, Masahiro, Higuchi, Yujiro, Hashiguchi, Akihiro, Matsuura, Eiji, Nozaki, Fumihito, Kumada, Tomohiro, Murayama, Kei, Suzuki, Mikiya, Yamamoto, Yuki, Matsui, Naoko, Miyazaki, Yoshimichi, Yamaguchi, Masamitsu, Suzuki, Youji, Mitsui, Jun, Ishiura, Hiroyuki, Tanaka, Masaki, Morishita, Shinichi, Nishino, Ichizo, Tsuji, Shoji, Takashima, Hiroshi
Format:	Artikel
Sprache:	eng
Schlagworte:	Central nervous system Charcot-Marie-Tooth disease Dehydrogenases Enoyl-CoA hydratase Medicine Medicine & Public Health Mitochondria Mutation Nervous system Neurology Neuroradiology Neurosciences Original Communication Peripheral neuropathy Polyneuropathy Polynucleotide adenylyltransferase Protozoa Pyruvic acid Skeletal muscle Succinate-CoA ligase Thiolase
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