Child Neurology: muscular dystrophy without contractures.
作者信息
Dean Marissa, Rashid Salman, Kupsky William, Moore Steven A, Jiang Huiyuan
机构信息
From the Departments of Neurology (M.D., S.R.) and Pathology (W.K.), Wayne State University School of Medicine; Department of Neurology (S.R., H.J.), Children's Hospital of Michigan, Detroit; and Department of Pathology (S.A.M.), University of Iowa Carver College of Medicine, Iowa City.
出版信息
Neurology. 2017 May 23;88(21):e199-e203. doi: 10.1212/WNL.0000000000003958.
Abstract
摘要
相似文献
1
Child Neurology: muscular dystrophy without contractures.儿童神经病学：无挛缩的肌营养不良症。
Neurology. 2017 May 23;88(21):e199-e203. doi: 10.1212/WNL.0000000000003958.
2
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).缺乏层黏连蛋白α2链的常染色体隐性遗传性先天性肌营养不良（MDC1A，MIM#156225，由LAMA2基因编码）
Eur J Hum Genet. 2002 Feb;10(2):91-4. doi: 10.1038/sj.ejhg.5200743.
3
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.层粘连蛋白α2链基因（LAMA2）突变会导致缺乏merosin的先天性肌营养不良。
Nat Genet. 1995 Oct;11(2):216-8. doi: 10.1038/ng1095-216.
4
Severe congenital muscular dystrophy in a LAMA2-mutated case.一例LAMA2基因变异导致的严重先天性肌营养不良症
Pediatr Neurol. 2007 Sep;37(3):212-4. doi: 10.1016/j.pediatrneurol.2007.05.008.
5
COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study.COL6A和LAMA2突变型先天性肌营养不良：一项临床与电生理研究
J Clin Neuromuscul Dis. 2018 Mar;19(3):108-116. doi: 10.1097/CND.0000000000000198.
6
7
High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.高肌酸激酶水平与白质改变：伴层粘连蛋白α-2缺乏的先天性肌营养不良的临床与遗传谱系
Mol Cell Probes. 2014 Aug;28(4):118-22. doi: 10.1016/j.mcp.2013.11.002. Epub 2013 Nov 10.
8
Merosin-deficient congenital muscular dystrophy type 1A.1A型缺乏层黏连蛋白α2的先天性肌营养不良症
Rom J Morphol Embryol. 2008;49(2):229-33.
9
Laminin alpha1 chain reduces muscular dystrophy in laminin alpha2 chain deficient mice.层粘连蛋白α1链可减轻层粘连蛋白α2链缺陷小鼠的肌肉萎缩。
Hum Mol Genet. 2004 Aug 15;13(16):1775-84. doi: 10.1093/hmg/ddh190. Epub 2004 Jun 22.
10
Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.LAMA2基因的新型突变导致两个突尼斯家庭出现先天性肌营养不良的严重表型。
Arch Inst Pasteur Tunis. 2006;83(1-4):19-23.
引用本文的文献
1
Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family.全外显子组测序作为越南一个家庭中不明原因肌肉萎缩症的诊断工具
Diagnostics (Basel). 2020 Sep 24;10(10):741. doi: 10.3390/diagnostics10100741.
2
Rare variant in gene causing congenital muscular dystrophy in a Sudanese family. A case report.导致苏丹一家先天性肌营养不良的基因罕见变异。病例报告。
Acta Myol. 2019 Mar 1;38(1):21-24. eCollection 2019 Mar.
本文引用的文献
1
LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.与LAMA2相关的肌病：在先天性和肢带型肌营养不良症中的发病率。
Muscle Nerve. 2015 Oct;52(4):547-53. doi: 10.1002/mus.24588. Epub 2015 Aug 13.
2
High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.高肌酸激酶水平与白质改变：伴层粘连蛋白α-2缺乏的先天性肌营养不良的临床与遗传谱系
Mol Cell Probes. 2014 Aug;28(4):118-22. doi: 10.1016/j.mcp.2013.11.002. Epub 2013 Nov 10.
3
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.由于 LAMA2 突变导致的肢带型肌营养不良症的临床和分子特征。
Muscle Nerve. 2011 Nov;44(5):703-9. doi: 10.1002/mus.22132. Epub 2011 Sep 26.
4
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.LAMA2 突变型肌营养不良症患者的大样本基因型-表型相关性研究。
Neuromuscul Disord. 2010 Apr;20(4):241-50. doi: 10.1016/j.nmd.2010.02.001. Epub 2010 Mar 6.
5
Bridging structure with function: structural, regulatory, and developmental role of laminins.具有功能的桥接结构：层粘连蛋白的结构、调节及发育作用
Int J Biochem Cell Biol. 2008;40(2):199-214. doi: 10.1016/j.biocel.2007.07.015. Epub 2007 Aug 6.
6
Limb-girdle muscular dystrophies--from genetics to molecular pathology.肢带型肌营养不良症——从遗传学到分子病理学
Neuropathol Appl Neurobiol. 2004 Apr;30(2):91-105. doi: 10.1111/j.1365-2990.2004.00555.x.
7
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.胶原蛋白VI基因的新型突变：贝斯勒肌病表型的扩展。
Neurology. 2002 Feb 26;58(4):593-602. doi: 10.1212/wnl.58.4.593.
8
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.伴有原发性部分层粘连蛋白α2链缺乏的先天性肌营养不良：分子研究
Neurology. 2001 Oct 9;57(7):1319-22. doi: 10.1212/wnl.57.7.1319.
9
MR imaging findings in children with merosin-deficient congenital muscular dystrophy.缺乏层黏连蛋白的先天性肌营养不良患儿的磁共振成像表现
AJNR Am J Neuroradiol. 1999 Feb;20(2):324-6.
Zotero 插件