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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...
Autores principales: | Kanemaru, Kazuki, Ogawa, Go, Mochizuki, Hitoshi, Nakazato, Masamitsu, Shiomi, Kazutake |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society of Internal Medicine
2019
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Materias: | |
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 |
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