Multiple respiratory complications in a patient with Charcot-Marie-Tooth disease with MFN2 mutation

Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy characterized by progressive atrophy of distal muscles. Respiratory complications are rare. We present a case of a 49-year-old male with childhood-onset CMT bearing a genetic mutation of MFN2. He had difficulty breathing when he...

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Detalles Bibliográficos
Autores principales: Sano, Tomoya, Miyata, Jun, Matsukida, Akira, Watanabe, Chie, Suematsu, Ryohei, Tagami, Yoichi, Kimizuka, Yoshifumi, Fujikura, Yuji, Kawana, Akihiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8866735/
https://www.ncbi.nlm.nih.gov/pubmed/35242516
http://dx.doi.org/10.1016/j.rmcr.2022.101601

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8866735/
https://www.ncbi.nlm.nih.gov/pubmed/35242516
http://dx.doi.org/10.1016/j.rmcr.2022.101601

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