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家族性传导系统异常伴心室预激及心肌肥厚一家系调查分析 被引量:9

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摘要 对发现的一个罕见家族性传导系统异常合并心室预激及心肌肥厚的大家系做初步调查分析。
出处 《中华心血管病杂志》 CAS CSCD 北大核心 2007年第3期258-259,共2页 Chinese Journal of Cardiology
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参考文献7

  • 1Gollob MH, Seger JJ, Gollob TN,et al. Novel PRKAG2 mutation in the genetic syndrome of ventricular preexcitation and conduction defects with childhood onset and absence of cardiac hypertrophy.Circulation, 2001,104(25) :3030-3033.
  • 2Blair E, Redwood C, Ashrafian H, et al. Mutations in the gamma (2) subunit of AMP activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum Mol Genet,2001,10 ( 11 ) : 1215-1220.
  • 3Gollob MH, Green MS, Tang A, et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med,2001,344(24) :1823-1864.
  • 4Marian AJ, Roberts,s R. The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol, 2001,33 ( 4 ) :655-670.
  • 5Sternick EB, Oliva A, Magalhaes LP, et al. Familial pseudo-Wolff-Parkinson-White syndrome. J Cardiovasc Electrophysiol,2006,17 (7) :724-732.
  • 6Arad M, Benson DW, Perez-Atayde AB, et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest, 2002,109(3) :357-362.
  • 7Laforet P, Richard P, Said MA, et al. A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.Neuromuscul Disord,2006,16(3 ) : 178-182.

同被引文献89

  • 1刘文玲,胡大一,刘国树,单兆亮,刘德强,王玉堂.家族性与散发性预激综合征临床及电生理比较[J].中国医药导刊,2004,6(4):239-241. 被引量:2
  • 2刘文玲,胡大一,刘国树,董玮,张海清,李蕾,吴炀,李运田.家族性预激综合征PRKAG2基因筛查[J].中华心律失常学杂志,2005,9(3):235-236. 被引量:2
  • 3洪葵,Antonio Oliva,程晓曙,Pedro Brugada,Joseph Brugada,Eduardo-back Sternick,Ramon Brugada.相同基因型而不同表现型的PRKAG2基因突变一家系报道[J].中华心血管病杂志,2007,35(6):552-554. 被引量:9
  • 4Golloh MH,Green MS,Tang ASL,et al.PRKAG2 cardiac syndrome:familial ventricular preexcitation,conduction system disease,and cardiac hypertrophy[J].Curr Opin Cardiol,2002,17(3):229-234.
  • 5Gollob MH,Seger J J,Gollob TN,et al.Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy[J].Circulation,2001,104(25):3030-3033.
  • 6Blair E,Redwood CS,Ashrafian H,et al.Mutations in the gamma(2) subunit of AMP-activated protein kinase cause hypertrophic cardiomyopathy:evidence For the central role of energy comp disease pathogenesis[J].Hum Mol Genet,2001,10(11):1215-1220.
  • 7MacRae CA,Ghasia N,Gass S,et al.Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3[J].J Clin Invest,1995,96(3):1216-1220.
  • 8Gollob MH,Green MS,Tang AS,et al.Identification of a gene responsible for familial Wolff-Parkinson-Whire syndrome[J].N Engl J Med,2001,344(24):1823-1864.
  • 9Bayrak F,Komurcu-Bayrak E,Mutlu B,et al.Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation[J].Eur J Heart Fail,2006,8(7):712-715.
  • 10Sternick EB,Oliva A,Magalhaes LP,et al.Familial pseudo-Wolff-Parkinson-White syndrome[J].J Cardiovase Electrophysiol,2006,17(7):724-732.

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