An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness

Charcot-Marie-Tooth disease (CMT) is a common hereditary peripheral polyneuropathy encompassing distinct monogenetic disorders. Pathogenic mutations in mitofusin 2 (MFN2) are the most frequent cause of its axonal type, CMT type 2A, with diverse phenotypes. We herein report a Japanese patient with a...

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Detalles Bibliográficos
Autores principales: Kimura, Yasuyoshi, Nishikawa, Akira, Hashiguchi, Akihiro, Etoh, Masaki, Yoshimura, Akiko, Asai, Kanako, Miyashita, Noriko, Takashima, Hiroshi, Sumi, Hisae, Naka, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259307/
https://www.ncbi.nlm.nih.gov/pubmed/34803088
http://dx.doi.org/10.2169/internalmedicine.6487-20

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