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线粒体脑肌病伴乳酸血症和卒中样发作综合征:典型的偏头痛和癫痫特征以及母系遗传。

MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission.

作者信息

Montagna P, Gallassi R, Medori R, Govoni E, Zeviani M, Di Mauro S, Lugaresi E, Andermann F

机构信息

Institute of Neurology, University of Bologna, Italy.

出版信息

Neurology. 1988 May;38(5):751-4. doi: 10.1212/wnl.38.5.751.

DOI:10.1212/wnl.38.5.751
PMID:3362373
Abstract

Severe prolonged migrainous symptoms and prolonged partial status epilepticus are characteristic features of the MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). Maternal transmission previously found in myoclonus epilepsy and ragged-red fibers (MERRF), another mitochondrial disease, is suggested in this disorder as well.

摘要

严重的长期偏头痛症状和长期部分性癫痫持续状态是线粒体脑肌病伴乳酸酸中毒及卒中样发作(MELAS综合征)的特征性表现。此前在另一种线粒体疾病——肌阵挛性癫痫伴破碎红纤维(MERRF)中发现的母系遗传,在该疾病中也有提示。

相似文献

1
MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission.线粒体脑肌病伴乳酸血症和卒中样发作综合征:典型的偏头痛和癫痫特征以及母系遗传。
Neurology. 1988 May;38(5):751-4. doi: 10.1212/wnl.38.5.751.
2
Mitochondrial DNA in migraine with aura.伴有先兆的偏头痛中的线粒体DNA
Neurology. 1996 Jun;46(6):1735-8. doi: 10.1212/wnl.46.6.1735.
3
[Ultrastructural and clinical findings of mitochondrial encephalomyopathy:report of 27 cases].线粒体脑肌病的超微结构及临床研究:附27例报告
Zhonghua Bing Li Xue Za Zhi. 2019 Apr 8;48(4):298-302. doi: 10.3760/cma.j.issn.0529-5807.2019.04.007.
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Involvement of extraocular muscle in mitochondrial encephalomyopathy.
Acta Neuropathol. 1990;80(2):118-22. doi: 10.1007/BF00308913.
5
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)患者的癫痫特征及临床结局
Pediatr Neurol. 2016 Nov;64:59-65. doi: 10.1016/j.pediatrneurol.2016.08.016. Epub 2016 Aug 26.
6
[Mitochondrial encephalomyopathy, lactic acidosis and features of cerebrovascular disorders].
Rev Chil Pediatr. 1990 May-Jun;61(3):143-8.
7
[Vascular pathology in chronic progressive external ophthalmoplegia with ragged-red fibers].[伴有破碎红纤维的慢性进行性眼外肌麻痹的血管病理学]
Rinsho Shinkeigaku. 1992 Feb;32(2):155-60.
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Mosaicism of mitochondria in mitochondrial myopathy: an electronmicroscopic analysis of cytochrome c oxidase.线粒体肌病中线粒体的异质性:细胞色素c氧化酶的电子显微镜分析
Acta Neuropathol. 1990;80(6):642-8. doi: 10.1007/BF00307633.
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Mitochondrial dysfunction in migraine.偏头痛中的线粒体功能障碍。
Semin Pediatr Neurol. 2013 Sep;20(3):188-93. doi: 10.1016/j.spen.2013.09.002.
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Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome.线粒体细胞病中的功能性呼吸链研究。对肌阵挛性癫痫伴蓬毛样红纤维(MERRF)综合征中线粒体DNA异质性的支持。
Acta Neuropathol. 1991;81(3):318-23. doi: 10.1007/BF00305874.

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