Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinica...

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Detalhes bibliográficos

Principais autores:	Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2026-01-01
coleção:	Annals of Clinical and Translational Neurology
Assuntos:	hmsn (charcot–marie‐tooth) neurogenetics neuropathy
Acesso em linha:	https://doi.org/10.1002/acn3.70218
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