Genetic factors in familial hypertrophic cardiomyopathy: does molecular cardiology offer new perspectives?
作者信息
Komajda M
出版信息
Heart. 1996 Dec;76(6):465-6. doi: 10.1136/hrt.76.6.465.
Abstract
摘要
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Genetic factors in familial hypertrophic cardiomyopathy: does molecular cardiology offer new perspectives?家族性肥厚型心肌病的遗传因素：分子心脏病学能提供新的视角吗？
Heart. 1996 Dec;76(6):465-6. doi: 10.1136/hrt.76.6.465.
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[Molecular biology in cardiology. Changes in the phenotype in heart failure and myocardial hypertrophy].[心脏病学中的分子生物学。心力衰竭和心肌肥大时的表型变化]
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Familial hypertrophic cardiomyopathy; a complex disease in which even the same can be different.家族性肥厚型心肌病；一种复杂的疾病，其中即使是相同的情况也可能存在差异。
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Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives.肥厚型心肌病 20 年后的遗传学：临床观点。
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[The contribution of molecular genetics to clinical cardiology: the example of hypertrophic cardiomyopathy].[分子遗传学对临床心脏病学的贡献：以肥厚型心肌病为例]
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Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.突变类型在预测肥厚型心肌病的预后方面没有临床意义。
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Diagnosis of hypertrophic cardiomyopathy and screening for the phenotype suggestive of gene carriage in familial disease: a simple echocardiographic procedure.肥厚型心肌病的诊断及家族性疾病中基因携带相关表型的筛查：一种简单的超声心动图检查方法。
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本文引用的文献
1
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.肌球蛋白必需轻链或调节轻链中的突变与人类心脏和骨骼肌中的一种罕见肌病相关。
Nat Genet. 1996 May;13(1):63-9. doi: 10.1038/ng0596-63.
2
Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction.一种在与肌动蛋白相互作用方面存在缺陷的心肌病肌球蛋白的异源表达。
J Biol Chem. 1994 Jan 21;269(3):1603-5.
3
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.α-原肌球蛋白和心肌肌钙蛋白T突变导致家族性肥厚型心肌病：一种肌节疾病。
Cell. 1994 Jun 3;77(5):701-12. doi: 10.1016/0092-8674(94)90054-x.
4
Molecular basis of familial cardiomyopathies.家族性心肌病的分子基础。
Circulation. 1995 Jan 15;91(2):532-40. doi: 10.1161/01.cir.91.2.532.
5
Angiotensin-I converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy.肥厚型心肌病患者的血管紧张素转换酶基因型与左心室肥厚
Circulation. 1995 Oct 1;92(7):1808-12. doi: 10.1161/01.cir.92.7.1808.
6
Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.伴有预激综合征的家族性肥厚型心肌病定位于7号染色体长臂3区的一个基因座。
J Clin Invest. 1995 Sep;96(3):1216-20. doi: 10.1172/JCI118154.
7
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.心肌肌球蛋白结合蛋白-C基因剪接受体位点突变与家族性肥厚型心肌病相关。
Nat Genet. 1995 Dec;11(4):438-40. doi: 10.1038/ng1295-438.
8
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1.将家族性肥厚型心肌病的一个基因定位于染色体14q1。
N Engl J Med. 1989 Nov 16;321(20):1372-8. doi: 10.1056/NEJM198911163212005.
9
A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.家族性肥厚型心肌病的分子基础：β心肌肌球蛋白重链基因错义突变。
Cell. 1990 Sep 7;62(5):999-1006. doi: 10.1016/0092-8674(90)90274-i.
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