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

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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Bibliographic Details
Main Authors: Tomoya Sano, Jun Miyata, Akira Matsukida, Chie Watanabe, Ryohei Suematsu, Yoichi Tagami, Yoshifumi Kimizuka, Yuji Fujikura, Akihiko Kawana
Format: Article
Language:English
Published: Elsevier 2022-01-01
Series:Respiratory Medicine Case Reports
Subjects:
Charcot-Marie-Tooth disease
Diaphragmatic dysfunction
Thoracic cage deformity
Pneumothorax
Restrictive pulmonary impairment
Sleep apnea syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S2213007122000235

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http://www.sciencedirect.com/science/article/pii/S2213007122000235

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