Elstein E, Liew C C, Sole M J
Centre for Cardiovascular Research, University of Toronto, Ontario, Canada.
J Mol Cell Cardiol. 1992 Dec;24(12):1471-7. doi: 10.1016/0022-2828(92)91087-l.
In this article we review the techniques of molecular biology as they apply to the elucidation of the genetic basis of hypertrophic cardiomyopathy. We review the evidence for linkage to chromosome 14 and the specific mutations described to date. The evidence for genetic heterogeneity is presented. We speculate on the pathophysiology of the disease from the perspective of the known molecular defects and review the clinical implications the evolving information may have.
在本文中，我们回顾了分子生物学技术，这些技术应用于阐明肥厚型心肌病的遗传基础。我们回顾了与14号染色体连锁的证据以及迄今为止所描述的特定突变。文中还展示了遗传异质性的证据。我们从已知分子缺陷的角度推测该疾病的病理生理学，并回顾不断发展的信息可能具有的临床意义。
