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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
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c07a/7313588/f289aed1f024/AIAN-23-399-g002.jpg
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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2
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Ann Clin Transl Neurol. 2018 Nov 9;6(1):154-160. doi: 10.1002/acn3.661. eCollection 2019 Jan.
3
The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis.
COX20 相关线粒体疾病患儿的临床和遗传学特征：病例报告及文献复习。
BMC Med Genomics. 2023 Apr 24;16(1):86. doi: 10.1186/s12920-023-01513-y.
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.
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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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Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.一个土耳其家族中的隐性肌张力障碍-共济失调综合征是由 COX20（FAM36A）突变引起的。
J Neurol. 2014 Jan;261(1):207-12. doi: 10.1007/s00415-013-7177-7. Epub 2013 Nov 8.
6
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