期刊文献+

Duchenne型肌营养不良分子发病机制及基因治疗新进展 被引量:7

原文传递
导出
摘要 Duchenne型肌营养不良(Duchenne muscular dystrophy,DMD)是最常见的肌营养不良类型,遗传方式为X染色体连锁隐性遗传。国外流行病学调查显示,发病率约为每3500至6000名活产男婴有1例发病。DMD及其良性病程表型——Becker型肌营养不良(Becker muscular dystrophy,BMD),都是由位于X染色体上的DMD基因缺陷所致,因此又统称为dystrophin病。
作者 戴毅 崔丽英
出处 《中华神经科杂志》 CAS CSCD 北大核心 2011年第5期350-353,共4页 Chinese Journal of Neurology
  • 相关文献

参考文献35

  • 1Williams WR,Thompson MW,Morton NE.Complex segregation analysis and computer-assisted genetic risk assessment for Duchenne muscular dystrophy.Am J Med Genet,1983,14:315-333.
  • 2van Essen AJ,Busch HF,te Meerman GJ,et al.Birth and population prevalence of Duchenne muscular dystrophy in the Netherlands.Hum Genet,1992,88:258-266.
  • 3Drousiotou A,Ioannou P,Georgiou T,et al.Neonatal screening for Duchenne muscular dystrophy:a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus.Genet Test,1998,2:55-60.
  • 4Hoffman EP,Brown RH Jr,Kunkel LM.Dystrophin:the protein product of the Duchenne muscular dystrophy locus.Cell,1987,51:919-928.
  • 5Oshima J,Magner DB,Lee JA,et al.Regional genomic instability predisposes to complex dystrophin gene rearrangements.Hum Genet,2009,126:411-423.
  • 6Barbujani G,Russo A,Danieli GA,et al.Segregation analysis of 1885 DMD families:significant departure from the expected proportion of sporadic cases.Hum Genet,1990,84:522-526.
  • 7England SB,Nicholson LV,Johnson MA,et al.Very mild muscular dystrophy associated with the deletion of 46% of dystrophin.Nature,1990,343:180-182.
  • 8Corrado K,Kafael JA,Mills PL,et al.Transgenic mdx mice expressing dystrophin with a deletion in the actin-binding domain display a "mild Becker" phenotype.J Cell Biol,1996,134:873-884.
  • 9Crawford GE,Faulkner JA,Crosbie RH,et al.Assembly of the dystrophin-associated protein complex does not require the dystrophin COOH-terminal domain.J Cell Biol,2000,150:1399-1410.
  • 10Judge LM,Haraguchiln M,Chamberlain JS.Dissecting the signaling and mechanical functions of the dystrophin-glycoprotein complex.J Cell Se-i,2006,119 (Pt 8):1537-1546.

二级参考文献25

  • 1朱朝辉,邢诗安,程平,曾甫清,鲁功成.膀胱癌细胞Bcl-x前体mRNA剪接模式调控的研究[J].中华泌尿外科杂志,2004,25(10):665-668. 被引量:2
  • 2张成,冯慧宇,黄绍良,方建培,肖露露,姚晓黎,陈纯,叶欣,曾缨,卢锡林,文剑明,张为西,李中,冯善伟,徐宏贵,黄科,周敦华,陈维,谢有梅,席静,张萌,黎阳,刘颖.脐血干细胞移植治疗假肥大型肌营养不良症[J].中华医学遗传学杂志,2005,22(4):399-405. 被引量:19
  • 3张成.肌营养不良.见:刘焯霖,梁秀龄,张成,主编.神经遗传病学.第2版.北京:人民卫生出版社,2002.207-216.
  • 4Sierakowska H,Sambade MJ,Agrawal S,et al.Repair of thalassemic human beta-globin mRNA in mammalian cells by antisense oligonucleotides.Proc Natl Acad Sci USA,1996,93:12840-12844.
  • 5Melis MA,Cau M,Muntoni F,et al.Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families.Eur J Paediatr Neurol,1998,2:255-261.
  • 6Ginjaar IB,Kneppers AL,v d Meulen JD,et al.Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.Eur J Hum Genet,2000,8:793-796.
  • 7Abmayr S,Gregorevic P,Allen JM,et al.Phenotypic improvement of dystrophic muscles by rAAV/microdystrophin vectors is augmented by Igf1 codelivery.Mol Ther,2005,12:441-450.
  • 8Lu QL,Morris GE,Wilton SD,et al.Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion.J Cell Biol,2000,148:985-996.
  • 9Ahmad A,Brinson M,Hodges BL,et al.Mdx mice inducibly expressing dystrophin provide insights into the potential of gene therapy for duchenne muscular dystrophy.Hum Mol Genet,2000,9:2507-2515.
  • 10Mann CJ,Honeyman K,Cheng AJ,et al.Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse.Proc Natl Acad Sci USA,2001,98:42-47.

共引文献9

同被引文献134

  • 1龚耀先,蔡太生.中国修订韦氏儿童智力量表[J].中国临床心理学杂志,1994,2(1):1-6. 被引量:126
  • 2朱海燕,邬玲仟,梁德生,夏家辉.DMD基因突变及突变检测技术研究进展[J].基础医学与临床,2005,25(11):975-981. 被引量:11
  • 3申本昌,张成,陈松林,孙筱放,李少英,姚晓黎,王淑辉,卢锡林.非缺失/重复型Duchenne肌营养不良症患者的致病点突变分析[J].中华医学遗传学杂志,2006,23(4):392-396. 被引量:16
  • 4Bushby K, Finkel R, Birnkrant D J, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1 : diagnosis, and pharmacological and psychosocial management. Lancet Neurol, 2010, 9: 77-93.
  • 5Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell, 1987, 51 : 919-928.
  • 6Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol, 2003, 2 : 731-740.
  • 7Aartsma-Rus A, Van Deutekom JC, Fokkema IF, et al. Entries in the Leiden Duchenne muscular dystrophy mutation database : an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve, 2006, 34 : 135-144.
  • 8Jennekens FG, ten Kate LP, de Visser M, et al. Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy. Neuromuscul Disord, 1991, 1: 389-391.
  • 9Wei X, Ju X, Yi X, et al. Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing. PLoS One, 2011, 6: e29500.
  • 10Bushby K, Finkel R, Birnkrant D J, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidiseiplinary care. Lancet Neurol, 2010, 9 : 177-189.

引证文献7

二级引证文献35

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部