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.
Abstract
摘要
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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.
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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.
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Myosinopathies: pathology and mechanisms.肌球蛋白病：病理学和发病机制。
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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。
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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.
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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.
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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.
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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.
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