Elstein E
McGill University, Montreal, Quebec, Canada.
Curr Opin Cardiol. 1995 May;10(3):293-8. doi: 10.1097/00001573-199505000-00010.
Hypertrophic cardiomyopathy has been shown to be a genetically heterogeneous disorder, linked to at least four different loci on chromosomes 14, 1, 15, and 11. Thus far, three genes have been identified that harbor mutations leading to hypertrophic cardiomyopathy. These genes--cardiac beta myosin heavy chain, alpha tropomyosin, and troponin T--code for proteins that are integral components of the sarcomere. Other loci and genes remain to be identified. Certain genotype-phenotype correlations appear to exist.
肥厚型心肌病已被证明是一种基因异质性疾病，与染色体14、1、15和11上至少四个不同的位点相关。到目前为止，已经确定了三个携带导致肥厚型心肌病突变的基因。这些基因——心脏β肌球蛋白重链、α原肌球蛋白和肌钙蛋白T——编码肌节的组成成分。其他位点和基因仍有待确定。某些基因型与表型之间似乎存在相关性。
