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Hypertrophic Cardiomyopathy: Distribution of Disease Genes, Spectrum of Mutations, and Implications for a Molecular Diagnosis Strategy
TLDR
A systematic screening of 9 genes in a large population to evaluate the distribution of the disease genes, and to determine the best molecular strategy in clinical practice, found that screening of already known mutations is not helpful and several mutations should be searched. Expand
De novo LMNA mutations cause a new form of congenital muscular dystrophy
TLDR
A new entity of congenital muscular dystrophies caused by de novo LMNA mutations is described, and it is proposed that this entity may represent a new type of dystrophy. Expand
MUSK, a new target for mutations causing congenital myasthenic syndrome.
TLDR
Results strongly suggest that the missense mutation, in the presence of a null mutation on the other allele, is responsible for the dramatic synaptic changes observed in the patient. Expand
Familial hypertrophic cardiomyopathy: from mutations to functional defects.
TLDR
Animal models and in vitro analyses have allowed a better understanding of the pathophysiological mechanisms associated with familial hypertrophic cardiomyopathy, and the development of other animal models and of other mechanistic studies linking the genetic mutation to functional defects are now key issues in understanding how alterations in the basic contractile unit of theCardiomyocyte alter the phenotype and the function of the heart. Expand
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset
TLDR
The present study represents the first identification of a gene responsible for classical MmD, demonstrates its genetic heterogeneity, and reassesses the nosological boundaries between Mmd and RSMD. Expand
Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.
TLDR
The present study provides the first organization and sequence for an MyBP-C gene, and finds six new mutations associated with FHC in seven unrelated French families that are predicted to produce truncated cardiac My BP-C polypeptides. Expand
Genetic advances in sarcomeric cardiomyopathies: state of the art
TLDR
The current application of genetics in clinical management is reviewed, focusing on hypertrophic cardiomyopathy as a paradigm; state-of-the-art genetic testing technology is discussed; emerging knowledge of gene expression in sarcomeric cardiomeopathies is reviewed; and both the prospects, as well as the challenges, of bringing genetics to medicine are discussed. Expand
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy
TLDR
It is shown that mutations in the ventricular regulatory myosin light chain gene (MYL2), located on chromosome 12q23q24.3, may be involved in familial and classical forms of hypertrophic cardiomyopathy, and new tools for the genetic analysis of patients with familial hypertrophic heart disease are provided. Expand
Cardiac myosin binding protein–C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
TLDR
In two unrelated French families linked to CMH4, the authors found a mutation in a splice acceptor site of the MyBP-C gene, which causes the skipping of the associated exon and could produce truncated cardiac My BP-Cs, further supporting the hypothesis that hypertrophic cardiomyopathy results from mutations in genes encoding contractile proteins. Expand
Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers.
TLDR
LMNA-related heart disease was associated with a high incidence of phenotypic progression and adverse arrhythmic and nonarrhythmmic events over long-term follow-up, and the index cardiac phenotype did not predict adverse events. Expand
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