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Myosin Myopathy Presenting as Chronic Progressive External Ophthalmoplegia.

作者信息

Maniyar Aamna M H, Singh Rakesh K, Ojha Pawan T, Chaudhary Gaurav S, Mahto Anuradha P, Shah Arjun G

机构信息

Department of Neurology, Grant Government Medical College and J. J. Hospital, Mumbai, Maharashtra, India.

出版信息

Ann Indian Acad Neurol. 2023 Nov-Dec;26(6):1024-1025. doi: 10.4103/aian.aian_552_23. Epub 2023 Nov 3.

DOI:10.4103/aian.aian_552_23
PMID:38229656
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10789400/
Abstract
摘要

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本文引用的文献

1
Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.纯合隐性 MYH2 突变模拟显性 MYH2 相关肌病。
Neuromuscul Disord. 2018 Aug;28(8):675-679. doi: 10.1016/j.nmd.2018.05.006. Epub 2018 May 21.
2
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.在患有先天性肌病、眼肌麻痹和面部肌无力的家庭成员中发现一种新的MYH2突变。
J Neurol. 2016 Jul;263(7):1427-33. doi: 10.1007/s00415-016-8154-8. Epub 2016 May 13.
3
Myosinopathies: pathology and mechanisms.肌球蛋白病:病理学和发病机制。
Acta Neuropathol. 2013 Jan;125(1):3-18. doi: 10.1007/s00401-012-1024-2. Epub 2012 Aug 5.
4
Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.由隐性 MYH2 突变导致快速 IIa 肌球蛋白重链缺失引起的人类疾病。
Brain. 2010 May;133(Pt 5):1451-9. doi: 10.1093/brain/awq083.
5
Hereditary myosin myopathies.遗传性肌球蛋白肌病
Neuromuscul Disord. 2007 May;17(5):355-67. doi: 10.1016/j.nmd.2007.02.008. Epub 2007 Apr 16.
6
A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.一种与17号染色体p13.1-p12区域相关的新型常染色体隐性遗传性伴有眼外肌麻痹的肌病。
Brain. 2005 Jan;128(Pt 1):42-51. doi: 10.1093/brain/awh338. Epub 2004 Nov 17.
7
Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene.常染色体显性遗传性肌病:肌球蛋白重链IIa基因中的错义突变(谷氨酸-706→赖氨酸)
Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14614-9. doi: 10.1073/pnas.250289597.
8
Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles.伴有先天性关节挛缩、眼肌麻痹和镶边空泡的常染色体显性遗传性肌病
Ann Neurol. 1998 Aug;44(2):242-8. doi: 10.1002/ana.410440215.