Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene.

Suppr

超能文献

作者信息

Pizzuti A, Fabbrini G, Salehi L, Vacca L, Inghilleri M, Dallapiccola B, Berardelli A

机构信息

CSS-San Giovanni Rotondo, Istituto Mendel, NEUROMED Institute, University "La Sapienza," Rome, Italy.

出版信息

Neurology. 2004 Mar 23;62(6):1021-2. doi: 10.1212/01.wnl.0000115174.96423.a8.

DOI:10.1212/01.wnl.0000115174.96423.a8

PMID:15037720

Abstract

摘要

相似文献

Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene.

Neurology. 2004 Mar 23;62(6):1021-2. doi: 10.1212/01.wnl.0000115174.96423.a8.

A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness.

Pediatr Allergy Immunol. 2001 Apr;12(2):107-11. doi: 10.1034/j.1399-3038.2001.0129999107.x.

Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances.莫尔-特拉内布尔格综合征中的肌张力障碍对γ-氨基丁酸能物质有反应。

Mov Disord. 2004 Oct;19(10):1241-3. doi: 10.1002/mds.20150.

A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.一例西班牙散发性耳聋-肌张力障碍（莫尔-特拉内耶尔格）综合征病例，其编码线粒体蛋白转位酶复合物组分TIMM8a的基因存在新突变。

Neuromuscul Disord. 2008 Dec;18(12):979-81. doi: 10.1016/j.nmd.2008.09.009. Epub 2008 Oct 25.

Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.包含BTK、TIMM8A、TAF7L和DRP2基因的连续性X染色体缺失综合征。

J Clin Immunol. 2007 Nov;27(6):640-6. doi: 10.1007/s10875-007-9123-x. Epub 2007 Sep 12.

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.连续 X 染色体缺失综合征的基因分析，包括 BTK 和 TIMM8A 基因。

J Hum Genet. 2011 Aug;56(8):577-82. doi: 10.1038/jhg.2011.61. Epub 2011 Jul 14.

Xq22.1 contiguous gene deletion syndrome of X-linked agammaglobulinemia and Mohr-Tranebjærg syndrome.X连锁无丙种球蛋白血症和莫尔-特拉内贝里格综合征的Xq22.1连续性基因缺失综合征

Ann Allergy Asthma Immunol. 2016 Jun;116(6):578-9. doi: 10.1016/j.anai.2016.03.014. Epub 2016 Apr 2.

Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.通过基因分析和初始听觉神经病对莫尔-特拉内伯格综合征（MTS）进行表型预测

BMC Med Genet. 2019 Jan 11;20(1):11. doi: 10.1186/s12881-018-0741-3.

Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene.一名患有耳聋-肌张力障碍肽（DDP1）基因新突变患者的临床及分子学发现。

Brain. 2003 Aug;126(Pt 8):1814-20. doi: 10.1093/brain/awg174. Epub 2003 Jun 4.

Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene.莫尔-特拉内布尔格综合征导致的眼睑痉挛和肢体肌张力障碍，伴有耳聋/肌张力障碍肽基因的一种新型剪接位点突变。

Mov Disord. 2007 Jul 15;22(9):1328-31. doi: 10.1002/mds.21351.

引用本文的文献

Familial 5.29 Mb deletion in chromosome Xq22.1-q22.3 with a normal phenotype: a rare pedigree and literature review.X 染色体 Xq22.1-q22.3 上 5.29Mb 的家族性缺失伴正常表型：一个罕见家系及文献复习

BMC Med Genomics. 2023 May 22;16(1):111. doi: 10.1186/s12920-023-01547-2.

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.鉴定并分析四名 Mohr-Tranebjærg 综合征（MTS）患者的缺失断点。

Sci Rep. 2022 Sep 2;12(1):14959. doi: 10.1038/s41598-022-18040-y.

Molecular Insights into Mitochondrial Protein Translocation and Human Disease.线粒体蛋白移位的分子机制与人类疾病

Genes (Basel). 2021 Jul 1;12(7):1031. doi: 10.3390/genes12071031.

Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.台湾X连锁无丙种球蛋白血症患者的独特临床特征及新突变

Front Immunol. 2020 Sep 4;11:2001. doi: 10.3389/fimmu.2020.02001. eCollection 2020.

BMC Med Genet. 2019 Jan 11;20(1):11. doi: 10.1186/s12881-018-0741-3.

Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing and genes.在一名患有包含和基因的连续性X染色体缺失综合征患者中，通过神经影像学检测到的神经退行性变化。

Cent Eur J Immunol. 2018;43(2):139-147. doi: 10.5114/ceji.2018.77383. Epub 2018 Jun 30.

Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.一名因DDP1基因新突变而患有莫尔-特拉内耶尔格综合征患者的分子遗传学研究

Neuromolecular Med. 2007;9(4):285-91. doi: 10.1007/s12017-007-8000-3. Epub 2007 Aug 3.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验