COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency

Michio Inoue, Shumpei Uchino, Aritoshi Iida, Satoru Noguchi, Shinichiro Hayashi, Tsutomu Takahashi, Katsunori Fujii, Hirofumi Komaki, Eri Takeshita, Ikuya Nonaka, Yukinori Okada, Takuya Yoshizawa, Leentje Van Lommel, Frans Schuit, Yu ichi Goto, Masakazu Mimaki, Ichizo Nishino

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Biochemistry, Genetics and Molecular Biology