期刊文献+

心肌致密化不全相关基因的定位和遗传多样性研究进展 被引量:5

暂未订购
导出
摘要 心肌致密化不全是一种以心内膜肌小梁海绵状增厚为主要病理表现的罕见的先天性畸形,为近年发现而命名的未分类心肌病,可散发或家族性发生,具有复杂的遗传多样性。该文简述其疾病相关基因和基因突变位点的研究进展。
作者 丁仲如
出处 《国际心血管病杂志》 2012年第2期74-76,共3页 International Journal of Cardiovascular Disease
基金 南京军区重大科研项目(07Z016)
  • 相关文献

参考文献21

  • 1Moric-Janiszewska E, Markiewicz-Loskot G. Genetic heterogeneity of left-ventricular noncompaction cardiomyopathy[J]. Clin Cardiol, 2008,31 (5) : 201-204.
  • 2Finsterer J. Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction [J]. Pediatr Cardiol,2009,30(5) :659- 681.
  • 3Captur G, Nihoyannopoulos P. Left ventricular non-compaction: genetic heterogeneity, diagnosis and elinieal course[J]. Int J Cardiol, 2010,140(2) : 145- 153.
  • 4Chang B, Momoi N, Shah L, et al. Gonadal mosaicism of a TAZ (G4. 5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction[J]. Mol Genet Metab, 2010,100(2) :198-203.
  • 5Bleyl SB, Mumford BR, Thompson V, et al. Neonatal, lethal noncomIoaction of the left ventricular myoeardium is allelic with Barth syndrome[J]. Am J Hum Genet, 1997,61 (4) :868-872.
  • 6Chen R, Tsuji T, Ichida F, et al. Mutation analysis of the G 4. 5 gene in patients with isolated left ventricular noncompaetion[J]. Mol Genet Metab,2002,77(4) :319-332.
  • 7Kenton AB, Sanchez X, Coveler KJ, et al. Isolated left ventricular noncompaetion is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12[J]. Mol Genet Metab, 2004,82(2):162-166.
  • 8Vatta M, Mohapatra B, Jimenez S, et al. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction[J]. J Am Coll Cardiol,2003, 42(11) :2014- 2017.
  • 9Hermida-Prieto M, Monserrat L, Castro Beiras A, et al. Familial dilated cardiomyopathy and isolated left ventricular noncompaetion associated with lamin A/C gene mutations [J]. Am J Cardiol,2004,94(1) :50-54.
  • 10Budde BS, Binner P, Waldmtiller S. et al. Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta myosin heavy chain gene [J]. PLoS One,2007, 2(12):e1362.

同被引文献87

  • 1王纯,邓又斌,朱英,朱美华,黄润青,刘娅妮,刘红云.超声造影评价肥厚型心肌病患者伴心肌致密化不全[J].中华医学超声杂志(电子版),2011,8(10):2111-2117. 被引量:7
  • 2Simona Sitia,Livio Tomasoni,Maurizio Turiel.Speckle tracking echocardiography:A new approach to myocardial function[J].World Journal of Cardiology,2010,2(1):1-5. 被引量:20
  • 3徐兢,陆凤翔,许迪,周蕾,雍永宏,陈莉,姚静,曹克将.超声心动图在心肌致密化不全心肌病家系分析中的应用[J].南京医科大学学报(自然科学版),2006,26(4):279-282. 被引量:4
  • 4闫朝武,赵世华,陆敏杰,蒋世良,韦云青,李世国,祁晓欧,张岩,刘玉清.左室心肌致密化不全的临床特征和磁共振成像表现[J].中华心血管病杂志,2006,34(12):1081-1084. 被引量:52
  • 5Grant RT. An unusual anomaly of the coronary vessels in themalformed heart of a child[^J]. Heart,1926,13 : 273-283.
  • 6Chin TK,Perloff JK,Williams RG,et al. Isolated noncompactionof left ventricular myocardium: a study of eight cases[J].Circulation, 1990,82(2): 507-513.
  • 7Maron BJ,Towbin JA,Thiene G,et al. Contemporary definitionsand classification of the cardiomyopathies : An Americanheart association scientific satement from the council onclinical cardiology, heart failure and transplantationcommittee; quality of care and outcomes research andfunctional genomics and translational biology interdisciplinaryworking groups; and council on epidemiology and prevention[J]. Circulation, 2006,113(14) : 1807-1816.
  • 8Moric-Janiszewska E, Markiewicz-Loskot G. Genetic heterogeneityof left-ventricular noncompaction cardiomyopathy [ J3. ClinCardiol, 2008,31(5): 201-204.
  • 9Finsterer J. Cardiogenetics,neurogenetics, and pathogenetics ofleft ventricular hypertrabeculation/noncompaction [ J ].Pediatr Cardiol, 2009, 30(5) * 659-681.
  • 10Stollberger C, Hamedanchi A, Finsterer J. Myopathy, apicalhypertrophic cardiomyopathy, and left ventricularnoncompaction within the same family [J3. Acta Cardiol,2009’ 64(1):35-40.

引证文献5

二级引证文献25

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