Autism spectrum disorder: A mitochondrial disorder.
作者信息
Finsterer Josef
机构信息
Messerli Institute, Klinik Landstrasse, Vienna, Austria.
出版信息
Iran J Child Neurol. 2021 Fall;15(4):115-117. doi: 10.22037/ijcn.v16i2.33066.
Abstract
摘要
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本文引用的文献
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Autistic feature as a presentation of Inborn Errors of Metabolism.自闭症特征作为先天性代谢缺陷的一种表现形式。
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2
Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder.在韩国自闭症谱系障碍患者中鉴定到 TFB2M 基因的罕见纯合 c.790C>T 变异。
Biochem Biophys Res Commun. 2018 Dec 9;507(1-4):148-154. doi: 10.1016/j.bbrc.2018.10.194. Epub 2018 Nov 7.
3
Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion.线粒体功能障碍与自闭症：自闭症儿童与 mtDNA 缺失的综合遗传分析。
Behav Brain Funct. 2018 Feb 20;14(1):4. doi: 10.1186/s12993-018-0135-x.
4
Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability.自闭症谱系障碍和智力残疾中线粒体功能障碍的遗传和临床证据。
Hum Mol Genet. 2018 Mar 1;27(5):891-900. doi: 10.1093/hmg/ddy009.
5
Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder.自闭症谱系障碍中的下一代测序线粒体DNA分析
Autism Res. 2017 Aug;10(8):1338-1343. doi: 10.1002/aur.1792. Epub 2017 Apr 17.
6
Association of human mtDNA mutations with autism in Iranian patients.伊朗患者中人类线粒体DNA突变与自闭症的关联。
J Res Med Sci. 2013 Oct;18(10):926.
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MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation.MELAS 综合征、心肌病、横纹肌溶解症和自闭症与线粒体 DNA A3260G 突变相关。
Biochem Biophys Res Commun. 2010 Nov 12;402(2):443-7. doi: 10.1016/j.bbrc.2010.10.060. Epub 2010 Oct 20.
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Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation.与线粒体DNA G8363A转移RNA（赖氨酸）突变相关的自闭症。
J Child Neurol. 2000 Jun;15(6):357-61. doi: 10.1177/088307380001500601.
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