与胶原蛋白VI相关的肌肉疾病。
Collagen VI related muscle disorders.
作者信息
Lampe A K, Bushby K M D
机构信息
Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ.
出版信息
J Med Genet. 2005 Sep;42(9):673-85. doi: 10.1136/jmg.2002.002311.
Abstract
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities. BM is a relatively mild dominantly inherited disorder characterised by proximal weakness and distal joint contractures. UCMD was originally described as an autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperlaxity. Here we review the clinical phenotypes of BM and UCMD and their diagnosis and management, and provide an overview of the current knowledge of the pathogenesis of collagen VI related disorders.
摘要
编码胶原蛋白VI（COL6A1、COL6A2和COL6A3）的基因突变会导致贝斯勒肌病（BM）和乌尔里希先天性肌营养不良症（UCMD），这两种病症以前被认为是完全不同的实体。BM是一种相对较轻的显性遗传性疾病，其特征为近端肌无力和远端关节挛缩。UCMD最初被描述为一种常染色体隐性疾病，会导致严重的肌无力，并伴有近端关节挛缩和远端关节过度松弛。在此，我们回顾了BM和UCMD的临床表型及其诊断和治疗，并概述了目前关于胶原蛋白VI相关疾病发病机制的知识。
相似文献
1
Collagen VI related muscle disorders.与胶原蛋白VI相关的肌肉疾病。
J Med Genet. 2005 Sep;42(9):673-85. doi: 10.1136/jmg.2002.002311.
2
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.三种胶原蛋白VI基因的自动化基因组序列分析：在乌尔里希先天性肌营养不良症和贝思伦肌病中的应用
J Med Genet. 2005 Feb;42(2):108-20. doi: 10.1136/jmg.2004.023754.
3
[Collagen VI-related muscle disorders].[与胶原蛋白VI相关的肌肉疾病]
Brain Nerve. 2011 Nov;63(11):1169-78.
5
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.胶原蛋白VI中的外显子跳跃突变很常见，并且可预测疾病严重程度和遗传方式。
Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704.
6
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.显性胶原蛋白VI突变是乌利希先天性肌营养不良的常见病因。
Hum Mol Genet. 2005 Jan 15;14(2):279-93. doi: 10.1093/hmg/ddi025. Epub 2004 Nov 24.
7
Autosomal dominant Ullrich congenital muscular dystrophy due to a mutation in gene. A case report.常染色体显性遗传型 Ullrich 先天性肌营养不良症，基因突变位于 基因。病例报告。
Acta Myol. 2022 Jun 30;41(2):95-98. doi: 10.36185/2532-1900-073. eCollection 2022 Jun.
8
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.与胶原蛋白VI相关的肌病，如乌尔里希先天性肌营养不良和贝斯勒姆肌病。
Handb Clin Neurol. 2011;101:81-96. doi: 10.1016/B978-0-08-045031-5.00005-0.
9
Collagen type VI myopathies.胶原 VI 型肌病。
Adv Exp Med Biol. 2014;802:185-99. doi: 10.1007/978-94-007-7893-1_12.
10
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.乌利希先天性肌营养不良的新分子机制：COL6A1基因中的杂合框内缺失导致严重表型。
Am J Hum Genet. 2003 Aug;73(2):355-69. doi: 10.1086/377107. Epub 2003 Jul 1.
引用本文的文献
1
The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice.糖基转移酶POGLUT1调节小鼠肌肉干细胞的发育与维持。
PLoS Genet. 2025 Aug 18;21(8):e1011806. doi: 10.1371/journal.pgen.1011806. eCollection 2025 Aug.
2
Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies.细胞衍生基质的纳米力学作为与VI型胶原相关的先天性肌营养不良症的功能性读数
J R Soc Interface. 2025 Mar;22(224):20240860. doi: 10.1098/rsif.2024.0860. Epub 2025 Mar 12.
3
The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice.糖基转移酶POGLUT1调节小鼠肌肉干细胞的发育与维持。
bioRxiv. 2024 Nov 25:2024.11.25.625261. doi: 10.1101/2024.11.25.625261.
4
Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families.COL6A基因家族突变导致三个无关家族的肌肉萎缩症
Iran Biomed J. 2024 Sep 1;28(5 & 6):297-304. doi: 10.61186/ibj.4018.
5
COL6A1 Inhibits the Malignant Development of Bladder Cancer by Regulating FBN1.COL6A1通过调节FBN1抑制膀胱癌的恶性发展。
Cell Biochem Biophys. 2025 Jun;83(2):1631-1643. doi: 10.1007/s12013-024-01573-6. Epub 2024 Oct 4.
6
Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.基因变异与文献综述：1例乌尔里希先天性肌营养不良病例报告
Mol Syndromol. 2024 Aug;15(4):311-316. doi: 10.1159/000536344. Epub 2024 Feb 26.
7
Type VI Collagen Deficiency Causes Enhanced Periodontal Tissue Destruction.VI 型胶原蛋白缺陷导致牙周组织破坏加重。
J Dent Res. 2024 Aug;103(9):878-888. doi: 10.1177/00220345241256306. Epub 2024 Jun 24.
8
Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.全外显子组测序在肌肉疾病诊断中的应用：一项针对台湾儿科患者的研究。
Front Genet. 2024 May 15;15:1365729. doi: 10.3389/fgene.2024.1365729. eCollection 2024.
9
Optimized allele-specific silencing of the dominant-negative G293R substitution causing collagen VI-related dystrophy.优化对导致VI型胶原相关营养不良的显性负性G293R替代的等位基因特异性沉默。
Mol Ther Nucleic Acids. 2024 Mar 22;35(2):102178. doi: 10.1016/j.omtn.2024.102178. eCollection 2024 Jun 11.
10
A humanized knock-in mouse recapitulates a deep-intronic splice-activating variant.一只人源化敲入小鼠重现了一个内含子深处的剪接激活变体。
bioRxiv. 2024 Mar 22:2024.03.21.581572. doi: 10.1101/2024.03.21.581572.
本文引用的文献
1
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.三种胶原蛋白VI基因的自动化基因组序列分析：在乌尔里希先天性肌营养不良症和贝思伦肌病中的应用
J Med Genet. 2005 Feb;42(2):108-20. doi: 10.1136/jmg.2004.023754.
2
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.显性胶原蛋白VI突变是乌利希先天性肌营养不良的常见病因。
Hum Mol Genet. 2005 Jan 15;14(2):279-93. doi: 10.1093/hmg/ddi025. Epub 2004 Nov 24.
3
The congenital muscular dystrophies in 2004: a century of exciting progress.2004年的先天性肌营养不良症：一个世纪以来令人振奋的进展。
Neuromuscul Disord. 2004 Oct;14(10):635-49. doi: 10.1016/j.nmd.2004.06.009.
4
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.利用单倍型分析和胶原蛋白VI免疫细胞化学技术对乌尔里希先天性肌营养不良进行产前诊断。
Prenat Diagn. 2004 Jun;24(6):440-4. doi: 10.1002/pd.902.
5
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.乌利希先天性肌营养不良症中胶原蛋白VI状态与临床严重程度：与COL6基因座连锁的11个家系的表型分析
Neuropediatrics. 2004 Apr;35(2):103-12. doi: 10.1055/s-2004-815832.
6
Ullrich disease due to deficiency of collagen VI in the sarcolemma.由于肌膜中胶原蛋白VI缺乏导致的乌尔里希病。
Neurology. 2004 Feb 24;62(4):620-3. doi: 10.1212/01.wnl.0000113023.84421.00.
7
Muscle ultrasound in Bethlem myopathy.贝思伦肌病中的肌肉超声检查
Neuropediatrics. 2003 Dec;34(6):335-6. doi: 10.1055/s-2003-44665.
8
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands.第117届欧洲神经肌肉疾病中心研讨会：先天性神经肌肉疾病的通气支持——先天性肌病、先天性肌营养不良、先天性强直性肌营养不良和脊髓性肌萎缩症（II型），2003年4月4日至6日，荷兰纳尔登
Neuromuscul Disord. 2004 Jan;14(1):56-69. doi: 10.1016/j.nmd.2003.09.003.
9
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.伴有胶原蛋白VI缺乏的肌病小鼠的线粒体功能障碍与细胞凋亡
Nat Genet. 2003 Dec;35(4):367-71. doi: 10.1038/ng1270. Epub 2003 Nov 16.
10
Long-term noninvasive ventilation in children and adolescents with neuromuscular disorders.患有神经肌肉疾病的儿童和青少年的长期无创通气
Eur Respir J. 2003 Oct;22(4):631-6. doi: 10.1183/09031936.03.00044303a.
Zotero 插件