Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.

doi:10.1002/ana.24612

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Article

Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.

Annals of neurology - 1 Apr 2016

Higuchi Yujiro, Hashiguchi Akihiro, Yuan Junhui, Yoshimura Akiko, Mitsui Jun, Ishiura Hiroyuki, Tanaka Masaki, Ishihara Satoshi, Tanabe Hajime, Nozuma Satoshi, Okamoto Yuji, Matsuura Eiji, Ohkubo Ryuichi, Inamizu Saeko, Shiraishi Wataru, Yamasaki Ryo, Ohyagi Yasumasa, Kira Jun-ichi, Oya Yasushi, Yabe Hayato, Nishikawa Noriko, Tobisawa Shinsuke, Matsuda Nozomu, Masuda Masayuki, Kugimoto Chiharu, Fukushima Kazuhiro, Yano Satoshi, Yoshimura Jun, Doi Koichiro, Nakagawa Masanori, Morishita Shinichi, Tsuji Shoji, Takashima Hiroshi

Abstract excerpt

OBJECTIVE: The objective of this study was to identify new causes of Charcot-Marie-Tooth (CMT) disease in patients with autosomal-recessive (AR) CMT. METHODS: To efficiently identify novel causative genes for AR-CMT, we analyzed 303 unrelated Japanese patients with CMT using whole-exome sequencing and extracted recessive variants/genes shared among multiple patients. We performed mutation screening of the newly...

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PMID: 26991897
DOI: 10.1002/ana.24612
PMCID: PMC5069600

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