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A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.ATP8A2 酶结构域内一种新的错义变异，以及由错义变化引起的 ATP8A2 相关疾病表型变异性的综述。
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A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of -related disorders caused by missense changes.ATP8A2的ATP酶结构域中的一种新型错义变体以及由错义变化引起的相关疾病的表型变异性综述。
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本文引用的文献

1
Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.ATP8A2关键结构域中的新型变异及临床谱的扩展
Hum Mutat. 2021 May;42(5):491-497. doi: 10.1002/humu.24180. Epub 2021 Mar 14.
2
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.ATP8A2 中的隐性突变可导致严重的肌张力减退、认知障碍、多动运动障碍和进行性视神经萎缩。
Orphanet J Rare Dis. 2018 May 31;13(1):86. doi: 10.1186/s13023-018-0825-3.
3
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
4
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.患者存在 t(10;13) 新发平衡易位和严重神经表型，ATP8A2 基因突变导致。
Eur J Hum Genet. 2010 Dec;18(12):1360-3. doi: 10.1038/ejhg.2010.126. Epub 2010 Aug 4.
5
A new syndrome with quadrupedal gait, primitive speech, and severe mental retardation as a live model for human evolution.一种具有四足步态、原始语言和严重智力迟钝的新综合征，作为人类进化的活体模型。
Int J Neurosci. 2006 Mar;116(3):361-9. doi: 10.1080/00207450500455330.

-Related Disorder: Beyond Cerebellar Ataxia.

作者信息

Alves Corazza Luíza, Lopes Braga Vinícius, Yoshinaga Tonholo Silva Thiago, Moura Rezende Filho Flávio, Ferraz Sallum Juliana Maria, Graziani Povoas Barsottini Orlando, Pedroso José Luiz

机构信息

Department of Neurology and Neurosurgery, Escola Paulista de Medicina Universidade Federal de São Paulo (UNIFESP) São Paulo Brazil.

出版信息

Mov Disord Clin Pract. 2023 Jun 30;10(8):1215-1216. doi: 10.1002/mdc3.13820. eCollection 2023 Aug.

DOI:10.1002/mdc3.13820
PMID:37635783
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10450237/
Abstract
摘要