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A 53-year-old man with a 16-year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging.

作者信息

Tanboon Jantima, El Sherif Rasha, Inoue Michio, Okubo Mariko, Malfatti Edoardo, Nishino Ichizo

机构信息

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

Departments of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

出版信息

Brain Pathol. 2023 Sep;33(5):e13171. doi: 10.1111/bpa.13171. Epub 2023 May 31.

DOI:10.1111/bpa.13171
PMID:37259682
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10467031/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/934d/10467031/56f8d2c7f1ac/BPA-33-e13171-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/934d/10467031/3bd8e9c97952/BPA-33-e13171-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/934d/10467031/56f8d2c7f1ac/BPA-33-e13171-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/934d/10467031/3bd8e9c97952/BPA-33-e13171-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/934d/10467031/56f8d2c7f1ac/BPA-33-e13171-g002.jpg

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本文引用的文献

1
The oxidoreductase PYROXD1 uses NAD(P) as an antioxidant to sustain tRNA ligase activity in pre-tRNA splicing and unfolded protein response.氧化还原酶 PYROXD1 使用 NAD(P) 作为抗氧化剂,以维持前 tRNA 剪接和未折叠蛋白反应中 tRNA 连接酶的活性。
Mol Cell. 2021 Jun 17;81(12):2520-2532.e16. doi: 10.1016/j.molcel.2021.04.007. Epub 2021 Apr 29.
2
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.PYROXD1 相关肌病的临床、组织学和遗传学特征。
Acta Neuropathol Commun. 2019 Aug 27;7(1):138. doi: 10.1186/s40478-019-0781-8.
3
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
氧化还原酶PYROXD1中的变异导致早发性肌病伴核内化和肌原纤维紊乱。
Am J Hum Genet. 2016 Nov 3;99(5):1086-1105. doi: 10.1016/j.ajhg.2016.09.005. Epub 2016 Oct 13.