Article
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes.
Journal of neurology - 1 Aug 2022
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
Abstract excerpt
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 nuclear genes in suspected hereditary peripheral neuropathy patients. We enrolled a large Japanese cohort of...
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