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CASQ1-related myopathy with additional primary Sjogren's disease: a case report.

作者信息

Hu Nan, Zhao Yanhuan, Qian Min, Liu Mingsheng

机构信息

Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.

出版信息

Neurol Sci. 2025 Aug;46(8):4073-4075. doi: 10.1007/s10072-025-08173-z. Epub 2025 Apr 21.

DOI:10.1007/s10072-025-08173-z
PMID:40254682
Abstract
摘要

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本文引用的文献

1
[Identification of a novel variant in a patient with Calsequestrin 1 related myopathy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Jun 10;41(6):745-748. doi: 10.3760/cma.j.cn511374-20211229-01023.
2
CASQ1-related myopathy: The first report from China and the literature review.与肌集钙蛋白1相关的肌病：来自中国的首例报告及文献综述
Clin Case Rep. 2022 Dec 8;10(12):e6689. doi: 10.1002/ccr3.6689. eCollection 2022 Dec.
3
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.应用下一代测序技术在意大利大样本队列中研究骨骼肌通道病。
Neuromuscul Disord. 2021 Apr;31(4):336-347. doi: 10.1016/j.nmd.2020.12.003. Epub 2020 Dec 14.
4
The clinical spectrum of -related myopathy.- 相关肌病的临床谱。
Neurology. 2018 Oct 23;91(17):e1629-e1641. doi: 10.1212/WNL.0000000000006387. Epub 2018 Sep 26.
5
Severe hydroxychloroquine myopathy.严重的羟氯喹肌病。
Muscle Nerve. 2008 Sep;38(3):1206-10. doi: 10.1002/mus.21091.