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心肌病的分子遗传学方面

Molecular genetic aspects of cardiomyopathy.

作者信息

Towbin J A

机构信息

Department of Pediatric Cardiology, Phoebe Willingham Muzzy Pediatric Molecular Cardiology Laboratory, Baylor College of Medicine, Houston, Texas.

出版信息

Biochem Med Metab Biol. 1993 Jun;49(3):285-320. doi: 10.1006/bmmb.1993.1032.

Abstract

Cardiomyopathies are a major cause of mortality and morbidity and this spectrum of disorders tops the list of diseases leading to cardiac transplantation. While significant gains have been made during the past decade clinically, knowledge of the molecular aspects of these disorders has taken longer to advance. During the past 5 years, however, molecular genetic information on a variety of primary cardiomyopathies, such as familial hypertrophic cardiomyopathy and X-linked dilated cardiomyopathy, has been obtained. Other primary and secondary myocardial diseases are now under study with advances occurring more regularly. The purpose of this review is to outline the major advances thus far described for some primary and secondary cardiomyopathies, as well as detailing the slower progress seen for others.

摘要

心肌病是导致死亡和发病的主要原因,这类疾病在需要心脏移植的疾病中位居榜首。尽管在过去十年临床方面已取得显著进展,但对这些疾病分子层面的了解进展较为缓慢。然而,在过去5年中,已获得了多种原发性心肌病的分子遗传学信息,如家族性肥厚型心肌病和X连锁扩张型心肌病。现在其他原发性和继发性心肌疾病也在研究中,进展更为频繁。本综述的目的是概述迄今为止一些原发性和继发性心肌病已描述的主要进展,并详述其他一些疾病进展较慢的情况。

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