与基因突变相关的构音障碍、共济失调和肌张力障碍：一名土耳其儿童的病例报告 - Suppr

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Dysarthria, Ataxia, and Dystonia Associated with Gene Mutation: A Case Report of a Turkish Child.

作者信息

Ozcanyuz Duygu G, Incecik Faruk, Herguner Ozlem M, Mungan Neslihan O, Bozdogan Sevcan T

机构信息

Division of Pediatric Neurology, Cukurova University Faculty of Medicine, Adana, Turkey.

Division of Pediatric Metabolism, Cukurova University Faculty of Medicine, Adana, Turkey.

出版信息

Ann Indian Acad Neurol. 2020 May-Jun;23(3):399-401. doi: 10.4103/aian.AIAN_536_19. Epub 2020 Jun 10.

DOI:10.4103/aian.AIAN_536_19

PMID:32606554

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7313588/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c07a/7313588/f289aed1f024/AIAN-23-399-g002.jpg

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本文引用的文献

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The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis.线粒体 TMEM177 在 COX2 生物发生过程中与 COX20 相关联。

Biochim Biophys Acta Mol Cell Res. 2018 Feb;1865(2):323-333. doi: 10.1016/j.bbamcr.2017.11.010. Epub 2017 Nov 16.

Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.人类COX20与SCO1和SCO2协同作用，使COX2成熟并促进细胞色素c氧化酶的组装。

Hum Mol Genet. 2014 Jun 1;23(11):2901-13. doi: 10.1093/hmg/ddu003. Epub 2014 Jan 8.

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