Mitochondrial myopathy, dysmorphism, exercise-induced vomiting and tachycardia the mutation m.4831G > A.
作者信息
Finsterer Josef, Zarrouk-Mahjoub Sinda
机构信息
Krankenanstalt Rudolfstiftung, Vienna, Austria.
University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.
出版信息
Mol Genet Metab Rep. 2017 May 13;11:74. doi: 10.1016/j.ymgmr.2017.04.007. eCollection 2017 Jun.
Abstract
摘要
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本文引用的文献
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Gastrointestinal manifestations of mitochondrial disorders: a systematic review.线粒体疾病的胃肠道表现：一项系统综述。
Therap Adv Gastroenterol. 2017 Jan;10(1):142-154. doi: 10.1177/1756283X16666806. Epub 2016 Oct 6.
2
Pure myopathy with enlarged mitochondria associated to a new mutation in gene.伴有线粒体增大的纯肌病与一个基因中的新突变相关。
Mol Genet Metab Rep. 2016 Dec 15;10:24-27. doi: 10.1016/j.ymgmr.2016.11.009. eCollection 2017 Mar.
3
Abdominal pain and vomiting as first sign of mitochondrial disease.腹痛和呕吐作为线粒体疾病的首发症状。
Acta Gastroenterol Belg. 2009 Jul-Sep;72(3):365-8.
4
MELAS without ragged red fibers or lactic acidosis diagnosed by mitochondrial DNA testing.通过线粒体DNA检测诊断出的无破碎红纤维或乳酸性酸中毒的线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）。
Jpn J Psychiatry Neurol. 1993 Sep;47(3):637-41. doi: 10.1111/j.1440-1819.1993.tb01810.x.
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