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Long-term subclinical severe hyperCKemia associated with a rare VPS13A gene mutation in an Iranian patient: Case report.

作者信息

Hadei Seyed Jalaleddin, Ghaderi-Yazdi Bardiya, Nafissi Shahriar

机构信息

Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Curr J Neurol. 2024 Jan 5;23(1):86-88. doi: 10.18502/cjn.v23i1.16439.

DOI:10.18502/cjn.v23i1.16439
PMID:39431226
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11489624/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d61/11489624/ef9b0df624a7/CJN-23-86-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d61/11489624/ef9b0df624a7/CJN-23-86-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d61/11489624/ef9b0df624a7/CJN-23-86-g001.jpg

相似文献

1
Long-term subclinical severe hyperCKemia associated with a rare VPS13A gene mutation in an Iranian patient: Case report.伊朗一名患者长期亚临床严重高肌酸激酶血症与罕见的VPS13A基因突变相关:病例报告
Curr J Neurol. 2024 Jan 5;23(1):86-88. doi: 10.18502/cjn.v23i1.16439.
2
Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel Mutation.一个具有新突变的家族中表现为常染色体隐性癫痫的舞蹈病-棘红细胞增多症
Front Neurol. 2019 Jan 9;9:1168. doi: 10.3389/fneur.2018.01168. eCollection 2018.
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Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.病例报告:舞蹈病-棘红细胞增多症在一个患有VPS13A基因无义突变的近亲家庭中表现为癫痫。
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An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis).VPS13A 病(舞蹈棘红细胞增多症)七例尸检系列。
Mov Disord. 2023 Dec;38(12):2163-2172. doi: 10.1002/mds.29589. Epub 2023 Sep 5.
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Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).在伊朗舞蹈手足徐动症(ChAc)患者中鉴定到 VSP13A 中的四个新突变。
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[Case-report of neuroacanthocytosis associated with a compound mutation in the VPS13A gene].[与VPS13A基因复合突变相关的神经棘红细胞增多症病例报告]
Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(9):104-110. doi: 10.17116/jnevro2021121091104.
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Case report: Neuroacanthocytosis associated with novel variants in the gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry.病例报告:与该基因新变异相关的神经棘红细胞增多症,伴有CANVAS的核苷酸扩增,并采用渗透梯度红细胞变形性测定法进行评估。
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本文引用的文献

1
Two case reports of chorea-acanthocytosis and review of literature.两例舞蹈棘红细胞增多症病例报告及文献复习。
Eur J Med Res. 2022 Feb 7;27(1):22. doi: 10.1186/s40001-022-00646-7.
2
Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.解开神经棘红细胞增多症综合征的谜团:进展。
J Mov Disord. 2015 May;8(2):41-54. doi: 10.14802/jmd.15009. Epub 2015 May 31.
3
Chorea-acanthocytosis: report of three cases from Iran.舞蹈棘红细胞增多症:来自伊朗的三例报告。
Arch Iran Med. 2012 Dec;15(12):780-2.
4
Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.使用外显子组测序进行神经棘红细胞增多症的基因诊断。
Mov Disord. 2012 Apr;27(4):539-43. doi: 10.1002/mds.24020. Epub 2011 Oct 28.
5
The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.编码新发现的蛋白质—— chorein 的基因在舞蹈病 - 棘红细胞增多症中发生突变。
Nat Genet. 2001 Jun;28(2):121-2. doi: 10.1038/88825.