Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T>C ND3 Mutation with a Normal Muscle Biopsy.
作者信息
Mukai Masako, Nagata Eiichiro
机构信息
Department of Neurology, Tokai University School of Medicine, Japan.
出版信息
Intern Med. 2017 Oct 1;56(19):2695. doi: 10.2169/internalmedicine.8962-17. Epub 2017 Sep 6.
Abstract
摘要
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T>C ND3 Mutation with a Normal Muscle Biopsy.因m.10158T>C ND3突变导致的线粒体肌病、脑病、乳酸性酸中毒和卒中样发作（MELAS），肌肉活检正常
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本文引用的文献
1
Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.基于从无任何肌病改变的活检肌肉中提取的线粒体DNA全序列诊断的成人起病的线粒体肌病、脑病、乳酸性酸中毒和卒中样脑病（MELAS）样脑病
Intern Med. 2017;56(1):95-99. doi: 10.2169/internalmedicine.56.7301. Epub 2017 Jan 1.
2
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.m.10191T>C 突变致复合体 I 缺陷 Leigh 综合征的临床谱。
Dev Med Child Neurol. 2012 Jun;54(6):500-6. doi: 10.1111/j.1469-8749.2012.04224.x. Epub 2012 Feb 27.
3
Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.罗兰多线粒体脑脊髓病与MT-ND3突变
Pediatr Neurol. 2009 Jul;41(1):27-33. doi: 10.1016/j.pediatrneurol.2009.02.010.
4
Clinical and molecular findings in children with complex I deficiency.患有复合体I缺乏症儿童的临床和分子学发现。
Biochim Biophys Acta. 2004 Dec 6;1659(2-3):136-47. doi: 10.1016/j.bbabio.2004.09.006.
5
A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.ND3基因中的一种新的线粒体DNA突变导致严重的 Leigh 综合征并伴有早期致死性。
Pediatr Res. 2004 May;55(5):842-6. doi: 10.1203/01.PDR.0000117844.73436.68. Epub 2004 Feb 5.
6
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
Ann Neurol. 2004 Jan;55(1):58-64. doi: 10.1002/ana.10787.
7
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.呼吸链缺陷中反复出现的新生线粒体DNA突变
J Med Genet. 2003 Dec;40(12):896-9. doi: 10.1136/jmg.40.12.896.
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