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Inherited Cardiomyopathies
The New England journal of medicine, 2011-04, Vol.364 (17), p.1643-1656
[Peer Reviewed Journal]
Copyright © 2011 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra0902923 ;PMID: 21524215
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Title:
Inherited Cardiomyopathies
Author:
Watkins, Hugh
;
Ashrafian, Houman
;
Redwood, Charles
Schwartz, Robert S.
Subjects:
Cardiomyopathies - classification
;
Cardiomyopathies - etiology
;
Cardiomyopathies - genetics
;
Cardiomyopathies - pathology
;
Cardiomyopathy
;
Cardiomyopathy, Dilated
;
Cardiomyopathy, Hypertrophic
;
Causes of
;
Desmosomes
;
Diabetic Cardiomyopathies
;
Genetic aspects
;
Heart diseases
;
Humans
;
Molecular genetics
;
Mutation
;
Myocardium - pathology
;
Penetrance
;
Phenotype
;
Sarcomeres
Is Part Of:
The New England journal of medicine, 2011-04, Vol.364 (17), p.1643-1656
Description:
This review gives an account of the molecular mechanisms that underlie various forms of inherited cardiomyopathies. Numerous, rare mutations occur in each category, and different mutations in the same genes can produce different phenotypes. Inherited cardiomyopathies are a major cause of heart disease in all age groups, often with an onset in adolescence or early adult life. Not only the patients but also their families can be severely burdened by these illnesses. More than 20 years ago, the first “disease gene” for hypertrophic cardiomyopathy was identified. 1 , 2 This finding led to the concept that hypertrophic cardiomyopathy is a disease of the sarcomere. 3 Similar advances in the elucidation of the genetic basis of other forms of cardiomyopathy, as well as in other inherited cardiovascular diseases, soon followed. The identification of disease genes in numerous inherited . . .
Publisher:
United States: Massachusetts Medical Society
Language:
English
Identifier:
ISSN: 0028-4793
EISSN: 1533-4406
DOI: 10.1056/NEJMra0902923
PMID: 21524215
Source:
ProQuest One Psychology
MEDLINE
Alma/SFX Local Collection
ProQuest Central
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