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FAMILIAL RESTRICTIVE CARDIOMYOPATHY--MOLECULAR GENETIC STUDIES IN LARGE KINDRED

FAMILIAL RESTRICTIVE CARDIOMYOPATHY--MOLECULAR GENETIC STUDIES IN LARGE KINDRED
家族性限制性心肌病--大家族的分子遗传学研究
批准号：
6109311
负责人：
V J FERRANS
金额：
$0.0万
依托单位：
NATIONAL HEART, LUNG, AND BLOOD INSTITUTE
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/6109311
关键词：
atrial fibrillation autosomal dominant trait child (0-11) clinical research cytoskeletal proteins exercise family genetics fibrous protein human subject human tissue immunocytochemistry immunoelectron microscopy intermediate filaments interview linkage mapping molecular pathology myocardium disorder posttranslational modifications

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中文摘要
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英文摘要
Study of skeletal and cardiac muscle from additional patients with familial restrictive cardiomyopathy has provided further documentation of the association of this syndrome with deposits of a morphologically abnormal material, which appears to represent an abnormal form of desmin, in cardiac and skeletal muscle. It seems likely that this material may differ among different patients, suggesting that there is a variety of genetic defects responsible for these alterations.
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会议论文
STUDIES OF THE MORPHOLOGY OF THE BIOPROSTHETIC HEART VALVES
SURGICAL PATHOLOGY OF THE CARDIOVASCULAR SYSTEM
ULTRASTRUCTURE AND FUNCTION OF THE MYOCARDIUM--AN OVERVIEW
INTRALUMINAL FIBROSIS IN FIBROTIC LUNG DISORDERS
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