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- Mizuki Ito, Sayuri Shima, Ryunosuke Nagao, Shoko Nakano, Konoka Esaka, Akihiro Ueda, Shingo Maeda, Ryoma Moriya, Masashi Kondo, Kazuyoshi Imaizumi, Seiya Noda, Masahisa Katsuno, Ichizo Nishino, and Hirohisa Watanabe.
- Department of Neurology, Fujita Health University School of Medicine, Japan.
- Intern. Med. 2022 Jun 15; 61 (12): 1897-1901.
AbstractNemaline myopathy (NM) is a rare muscle disease with various clinical types. In some cases, NM can lead to type 2 respiratory failure and right heart failure. We herein report a patient with congenital NM with nebulin gene mutation who presented with acute right heart failure and type 2 respiratory failure due to respiratory muscle paralysis after upper respiratory tract infection, needing a permanent ventilator for assistance. However, the limb and trunk muscle strengths were within normal limits. This case showed that NM should be considered as a cause of right heart failure and type 2 respiratory failure.
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