期刊
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
卷 4, 期 1, 页码 99-113出版社
TAYLOR & FRANCIS AS
DOI: 10.1586/14737159.4.1.99
关键词
Fabry disease; Friedreich ataxia; gene mutation; genetics; hypertrophic cardiomyopathy; mitochondrial disease; myosin; myotonic dystrophy; sarcomere
类别
资金
- NATIONAL HEART, LUNG, AND BLOOD INSTITUTE [R01HL069071] Funding Source: NIH RePORTER
- NHLBI NIH HHS [1 R01 HL69071-01] Funding Source: Medline
Hypertrophic cardiomyopathy is a Mendelian disease characterized by cardiac hypertrophy. It has a prevalence of 1:500 individuals and is the most common cause of sudden death in the young. Other complications include heart failure and the need for heart transplantation. Hypertrophic cardiomyopathy is due to sarcomeric gene mutations, however, phenocopies with myocardial hypertrophy can be due to triplet-repeat syndromes (Friedreich ataxia and myotonic dystrophy), mitochondrial and metabolic diseases. In a peculiar form associated with Wolf-Parkinson-White syndrome, the disease is caused by mutations in the gamma(2) regulatory subunit of the AMP-activated protein kinase gene, leading to a glycogen storage cardiomyopathy. In spite of the growing knowledge about the molecular basis of hypertrophic cardiomyopathy, very little is still known about the genotype-phenotype correlations and their clinical implications. In this review, the clinical and molecular genetics of hypertrophic cardiomyopathy are described.
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