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Pathological evidence of demyelination in the recurrent laryngeal, phrenic, and oculomotor nerves in Charcot-Marie-Tooth disease 4F

We present pathology of the peripheral nerves of a patient with Adult-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation p.D651N. The patient was a 72-year-old woman. She had hoarseness and underwent continuous positive airway pressure therapy at night due to sleep apnea. The pati...

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Detalles Bibliográficos
Autores principales: Maeda, Kengo, Yamamoto, Yutaka, Ohuchi, Masatsugu, Sakashita, Takuto, Shiohara, Masanori, Namura, Tomo, Shintaku, Masayuki, Matsuura, Eiji, Takashima, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8713021/
https://www.ncbi.nlm.nih.gov/pubmed/34993357
http://dx.doi.org/10.1016/j.ensci.2021.100358