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中国假肥大型肌营养不良症诊治指南 被引量:51

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摘要 假肥大型肌营养不良症(pseudohypertrophy muscular dystrophy )包括杜兴型肌营养不良症( Duchenne muscular dystrophy, DMD)和贝克型肌营养不良症( Becker muscular dystrophy, BMD),二者均是由于抗肌萎缩蛋白(dystrophin,dys)基因突变所致的x-连锁隐性遗传病。DMD的发病率约为30/10万男婴。
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出处 《中华神经科杂志》 CAS CSCD 北大核心 2016年第1期17-20,共4页 Chinese Journal of Neurology
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参考文献12

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  • 3Zhang H, Zhu Y, Sun Y, et al. Serum creatinine level: a supplemental index to distinguish Duchenne muscular dystrophy from Becker muscular dystrophy [ J ]. Dis Markers, 2015, 2015 : 141856. DOI: 10. 1155/2015/141856.
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  • 5Li X, Zhao L, Zhou S, et al. A comprehensive database of Duchenne and Becket muscular dystrophy patients (0-18 years old) in East China[J]. Orphanet J Rare Dis, 2015, 10: 5. DOI: 10. 1186/s13023-014-0220-7.
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  • 7Chen WJ, Lin QF, Zhang QJ, et al. Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation- dependent probe amplification and Sanger sequencing [ J ]. C/in Chim Acta, 2013, 423 : 35-38. DOI: 10. 1016/j. cca. 2013.04. 006.
  • 8Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duehenne muscular dystrophy, part 2: implementation of muhidiseiplinary care [ J ]. Lancet Neurol, 2010, 9 (2) : 177-189. DOI : 10. 1016/S1474-4422 ( 09 ) 70272- 8.
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二级参考文献7

  • 1张成,陈维,肖露露,谭恩勋,罗绍凯,郑冬,叶欣,李中,卢锡林,刘颖.异基因脐带血干细胞移植治疗假肥大型肌营养不良症一例[J].中华医学杂志,2005,85(8):522-525. 被引量:7
  • 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刘焯霖,梁秀龄.张成.神经遗传病学3版.北京:人民卫生出版社,2012:194-285.
  • 4Gussoni E, Bennett RR, Muskiewicz KR, et al. Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. J Clin Invest, 2002, 110:807-814.
  • 5Kohler M, Clarenbaeh CF, Boni L, et al. Quality of life, physical disability, and respiratory impairment in Duchenne muscular dystrophy. Am J Respir Crit Care Med, 2005, 172: 1032-1036.
  • 6Bushby 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.
  • 7Bushby K, Finkel R, Birnkrant D J, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of muhidisciplinary care. Lancet Ncurol, 2010, 9:177-189.

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