A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.
作者信息
Todorova A, Halliger-Keller B, Walter M C, Dabauvalle M-C, Lochmüller H, Müller C R
机构信息
Department of Human Genetics, Biozentrum, University of Wuerzburg, Germany.
出版信息
J Med Genet. 2003 Oct;40(10):e115. doi: 10.1136/jmg.40.10.e115.
Abstract
摘要
相似文献
1
A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.LMNA基因中的同义密码子变化会改变mRNA剪接，并导致1B型肢带型肌营养不良。
J Med Genet. 2003 Oct;40(10):e115. doi: 10.1136/jmg.40.10.e115.
2
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).伴有房室传导障碍的常染色体显性肢带型肌营养不良症（LGMD1B）中编码核纤层蛋白A/C的基因突变鉴定。
Hum Mol Genet. 2000 May 22;9(9):1453-9. doi: 10.1093/hmg/9.9.1453.
3
A new LMNA mutation causing limb girdle muscular dystrophy 1B.一种导致肢带型肌营养不良1B型的新型LMNA突变。
J Neurol. 2005 May;252(5):621-3. doi: 10.1007/s00415-005-0719-x. Epub 2005 Mar 29.
4
A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block.在一名患有常染色体显性肢带型肌营养不良症和心脏传导阻滞的日本患者中，核纤层蛋白A/C基因第8外显子存在错义突变。
Neuromuscul Disord. 2001 Sep;11(6-7):542-6. doi: 10.1016/s0960-8966(01)00207-3.
5
Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.由于LAMA2基因的剪接突变导致外显子跳跃和mRNA水平显著降低而引起的严重MDC1A先天性肌营养不良。
Genet Test. 2007 Fall;11(3):199-207. doi: 10.1089/gte.2006.0517.
6
Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation.单一肌营养不良蛋白基因中的两种不同突变：将一个改变的剪接位点鉴定为主要的贝克型肌营养不良症突变。
Am J Med Genet. 1993 Jun 15;46(5):563-9. doi: 10.1002/ajmg.1320460521.
7
Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.肌营养不良蛋白基因第27外显子内的剪接增强子序列因无义突变而破坏，导致该外显子部分跳跃，这是贝克型肌营养不良症的病因。
J Clin Invest. 1997 Nov 1;100(9):2204-10. doi: 10.1172/JCI119757.
8
How neutral are synonymous codon mutations?同义密码子突变的中性程度如何？
Nat Genet. 1995 Jul;10(3):259. doi: 10.1038/ng0795-259.
9
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.与假定的E3泛素连接酶基因TRIM32突变相关的2H型肢带型肌营养不良症
Am J Hum Genet. 2002 Mar;70(3):663-72. doi: 10.1086/339083. Epub 2002 Jan 29.
10
Molecular cloning of mouse canp3, the gene associated with limb-girdle muscular dystrophy 2A in human.与人类肢带型肌营养不良2A相关的基因——小鼠canp3的分子克隆。
Mamm Genome. 1996 May;7(5):377-9. doi: 10.1007/s003359900108.
引用本文的文献
1
Somatic and germinal mosaicism of a canonical splicing variant causing limb-girdle muscular dystrophy type 1B.导致1B型肢带型肌营养不良的一种典型剪接变异体的体细胞和生殖系嵌合现象。
J Appl Genet. 2025 Aug 16. doi: 10.1007/s13353-025-01002-1.
2
A precise and efficient adenine base editor.一种精确高效的腺嘌呤碱基编辑器。
Mol Ther. 2022 Sep 7;30(9):2933-2941. doi: 10.1016/j.ymthe.2022.07.010. Epub 2022 Jul 12.
3
[Clinical and genetic features of limb-girdle muscular dystrophy type 1B: a case report].1B型肢带型肌营养不良症的临床及遗传学特征：一例报告
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Dec;20(12):1015-1019. doi: 10.7499/j.issn.1008-8830.2018.12.007.
4
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.根据相应基因的突变容忍度和突变结构对下一代测序检测到的变体进行优先级排序。
Int J Mol Sci. 2018 May 27;19(6):1584. doi: 10.3390/ijms19061584.
5
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?所有先前报道的肢带型肌营养不良基因中的遗传变异都是致病性的吗？
Eur J Hum Genet. 2016 Jan;24(1):73-7. doi: 10.1038/ejhg.2015.76. Epub 2015 Apr 22.
6
Purifying selection in deeply conserved human enhancers is more consistent than in coding sequences.在深度保守的人类增强子中，纯化选择比在编码序列中更具一致性。
PLoS One. 2014 Jul 25;9(7):e103357. doi: 10.1371/journal.pone.0103357. eCollection 2014.
7
Cardioembolic stroke related to limb-girdle muscular dystrophy 1B.与1B型肢带型肌营养不良相关的心源性栓塞性卒中
BMC Res Notes. 2013 Jan 29;6:32. doi: 10.1186/1756-0500-6-32.
8
Emerging Roles of Alternative Pre-mRNA Splicing Regulation in Neuronal Development and Function.可变前体mRNA剪接调控在神经元发育和功能中的新作用
Front Neurosci. 2012 Aug 21;6:122. doi: 10.3389/fnins.2012.00122. eCollection 2012.
9
A new LMNA mutation causing limb girdle muscular dystrophy 1B.一种导致肢带型肌营养不良1B型的新型LMNA突变。
J Neurol. 2005 May;252(5):621-3. doi: 10.1007/s00415-005-0719-x. Epub 2005 Mar 29.
Zotero 插件