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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Reply to Letter: "-Related Leigh Syndrome Phenotypically Manifesting with Mobile Dystonia and Hypoacusis".
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本文引用的文献
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Leigh syndrome caused by mutations in is associated with a better prognosis.
Ann Clin Transl Neurol. 2019 Feb 17;6(3):515-524. doi: 10.1002/acn3.725. eCollection 2019 Mar.
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Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Mol Genet Metab. 2014 Mar;111(3):342-352. doi: 10.1016/j.ymgme.2013.12.010. Epub 2013 Dec 25.
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Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
Cell Metab. 2011 Sep 7;14(3):428-34. doi: 10.1016/j.cmet.2011.07.010.
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