A Sporadic Case of Charcot-Marie-Tooth Disease Type 2 with Left Vocal Fold Palsy due to Mitofusin 2 Mutation

A 33-year-old Japanese woman was referred for hoarseness. She had been diagnosed with Charcot-Marie-Tooth disease at age 3 and bilateral optic atrophy at age 15. Laryngoscopy revealed left vocal fold palsy. These findings suggested Charcot-Marie-Tooth disease type 2; the diagnosis was confirmed by a...

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Detalles Bibliográficos
Autores principales: Kanemaru, Kazuki, Ogawa, Go, Mochizuki, Hitoshi, Nakazato, Masamitsu, Shiomi, Kazutake
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6701995/
https://www.ncbi.nlm.nih.gov/pubmed/30996168
http://dx.doi.org/10.2169/internalmedicine.2318-18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6701995/
https://www.ncbi.nlm.nih.gov/pubmed/30996168
http://dx.doi.org/10.2169/internalmedicine.2318-18

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