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OBJECTIVES This study was performed to evaluate the characteristics, mode of inheritance and etiology of familial dilated cardiomyopathy (FDC). BACKGROUND A genetic form of disease transmission has been identified in a relevant proportion of patients with dilated cardiomyopathy (DCM). Variable clinical characteristics and patterns of inheritance, and an(More)
BACKGROUND Mutations in the beta-myosin heavy-chain (betaMyHC) gene cause hypertrophic (HCM) and dilated (DCM) forms of cardiomyopathy. In failing human hearts, downregulation of alphaMyHC mRNA or protein has been correlated with systolic dysfunction. We hypothesized that mutations in alphaMyHC could also lead to pleiotropic cardiac phenotypes, including(More)
RATIONALE We previously discovered the human 10T-->C (Trp4Arg) missense mutation in exon 2 of the muscle LIM protein (MLP, CSRP3) gene. OBJECTIVE We sought to study the effects of this single-nucleotide polymorphism in the in vivo situation. METHODS AND RESULTS We now report the generation and detailed analysis of the corresponding Mlp(W4R/+) and(More)
RATIONALE Telethonin (also known as titin-cap or t-cap) is a 19-kDa Z-disk protein with a unique β-sheet structure, hypothesized to assemble in a palindromic way with the N-terminal portion of titin and to constitute a signalosome participating in the process of cardiomechanosensing. In addition, a variety of telethonin mutations are associated with the(More)
Muscle LIM protein (MLP, also known as cysteine rich protein 3 (CSRP3, CRP3)) is a muscle-specific-expressed LIM-only protein. It consists of 194 amino-acids and has been described initially as a factor involved in myogenesis (Arber et al. Cell 79:221-231, 1994). MLP soon became an important model for experimental cardiology when it was first demonstrated(More)
Mechanosensation (the ultimate conversion of a mechanical stimulus into a biochemical signal) as well as mechanotransduction (transmission of mechanically induced signals) belong to the most fundamental processes in biology. These effects, because of their dynamic nature, are particularly important for the cardiovascular system. Therefore, it is not(More)
Rationale: Telethonin (also known as titin-cap or t-cap) is a 19-kDa Z-disk protein with a unique ␤-sheet structure, hypothesized to assemble in a palindromic way with the N-terminal portion of titin and to constitute a signalosome participating in the process of cardiomechanosensing. In addition, a variety of telethonin mutations are associated with the(More)
In clinical surveys, familial dilated cardiomyopathy (FDC) has been demonstrated in 20% to 30% of patients. In these patients, the cause of the disease lies at the DNA level. Molecular genetic studies represent the tools for the understanding of the etiology of FDC and are currently producing relevant advances: 6 different loci have been mapped so far. The(More)
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