Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure-Reference-Cited by-同舟云学术

Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure

Published:2022 Issue: Volume: Page:
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Ito Mizuki¹,Shima Sayuri¹,Ryunosuke Nagao¹,Nakano Shoko¹,Esaka Konoka¹,Ueda Akihiro¹,Maeda Shingo²,Moriya Ryoma²,Kondo Masashi²,Imaizumi Kazuyoshi²,Noda Seiya³,Katsuno Masahisa³,Nishino Ichizo⁴,Watanabe Hirohisa¹

Affiliation:

1. Department of Neurology, Fujita Health University, School of Medicine, Japan

2. Department of Respiratory Medicine, Fujita Health University, School of Medicine, Japan

3. Department of Neurology, Nagoya University Graduate School of Medicine, Japan

4. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_8314-21/_pdf

Reference16 articles.

1. 1. Ryan MM, Schnell C, Strickland CD, et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 50: 312-320, 2001.

2. 2. Chahin N, Selcen D, Engel AG. Sporadic late onset nemaline myopathy. Neurology 65: 1158-1164, 2005.

3. 3. Shimomura C, Nonaka I. Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms. Pediatr Neurol 5: 25-31, 1989.

4. 4. Hamanaka K, Miyatake S, Koshimizu E, et al. RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. Genet Med 21: 1629-1638, 2019.

5. 5. Tsunoda K, Yamashita T, Motokura E, et al. A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene. J Neurol Sci 373: 254-257, 2017.

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