Article
INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.
Annals of clinical and translational neurology - 1 Jan 2026
Yano Chikashi, Ando Masahiro, Higuchi Yujiro, Yuan Jun-Hui, Yoshimura Akiko, Hobara Takahiro, Nagatomo Risa, Kojima Fumikazu, Hiramatsu Yu, Nozuma Satoshi, Nakamura Tomonori, Sakiyama Yusuke, Matsuoka Chika, Yamashita Toru, Kimura Takashi, Miyazaki Ayako, Kinjo Chinatsu, Yokochi Kenji, Yamanaka Nanami, Matsuda Nozomu, Suichi Tomoki, Hanaoka Yoshiyuki, Kojima Haruka, Todo Kenichi, Ishiura Hiroyuki, Mitsui Jun, Tsuji Shoji, Takashima Hiroshi
Abstract excerpt
BACKGROUND: INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot-Marie-Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2-related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune-mediated disorders such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). METHODS:...
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