Nonprogressive Mobile Dystonia in -Related Mitochondrial Disease.
作者信息
Set Kallol Kumar, De Dios Karl
机构信息
Department of Pediatric Neurology Dayton Children's Hospital, Boonshoft School of Medicine, Wright State University Dayton Ohio USA.
Department of Genetics Dayton Children's Hospital, Boonshoft School of Medicine, Wright State University Dayton Ohio USA.
出版信息
Mov Disord Clin Pract. 2022 Oct 22;10(1):145-147. doi: 10.1002/mdc3.13595. eCollection 2023 Jan.
Abstract
摘要
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引用本文的文献
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本文引用的文献
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2
Mitochondrial Disorders of the Nervous System: A Review.神经系统的线粒体疾病：综述
Clin Pediatr (Phila). 2019 Apr;58(4):381-394. doi: 10.1177/0009922818821890. Epub 2019 Jan 4.
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Movement disorders in mitochondrial disease.线粒体病中的运动障碍。
J Neurol. 2018 May;265(5):1230-1240. doi: 10.1007/s00415-017-8722-6. Epub 2018 Jan 6.
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Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.线粒体病锥体外系运动障碍的临床、遗传和影像学特征。
JAMA Neurol. 2016 Jun 1;73(6):668-74. doi: 10.1001/jamaneurol.2016.0355.
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Mol Genet Metab. 2016 Mar;117(3):300-12. doi: 10.1016/j.ymgme.2015.12.004. Epub 2015 Dec 19.
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J Biol Chem. 2014 Nov 21;289(47):32729-41. doi: 10.1074/jbc.M114.610626. Epub 2014 Oct 6.
8
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.通过外显子组测序和候选基因筛查鉴定出的11例患者的表型谱及5种新的MTFMT突变
Mol Genet Metab. 2014 Mar;111(3):342-352. doi: 10.1016/j.ymgme.2013.12.010. Epub 2013 Dec 25.
9
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.MTFMT 中的突变导致了一种影响线粒体翻译的人类形式化障碍疾病。
Cell Metab. 2011 Sep 7;14(3):428-34. doi: 10.1016/j.cmet.2011.07.010.
10
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