Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations

Abstract

The authors wish to correct errors that appeared in the Methods section and throughout the paper. The correct sentences are below. The authors regret the errors.Mutation analysis of TNNI3 by direct sequencing identified a 87A→G nucleotide substitution of exon 8 resulting in an Asp190Gly amino acid substitution that segregated with the disease in the family (maximal two-point lode score: 4.8).Direct sequencing of TNNI3 identified a 93G→A nucleotide substitution of exon 8, which resulted in an Arg192His amino acid substitution. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

β-Catenin accumulates in intercalated disks of hypertrophic cardiomyopathic hearts

“…The interplay of mutations with other concurrent genetic and/or environmental factors and the activation of aberrant intracellular signaling pathways [34,35], very likely, cause the protean clinical outcome of cardiomyopathies. The y-SG null hamster represents a clear example of this phenomenon.…”

Genes Causing Inherited Forms of Cardiomyopathies

“…Idiopathic RCM may develop at any age, but incidence increases with age and RCM is more common in women than men [44]. RCM may account for 15-25% of deaths in equatorial Africa and for approximately 5% of all cases of primary heart muscle disease [44] [62,63] have been identified in the same sarcomeric proteins and overlapping features have been noted in some other patients [43].…”

Genetic Evaluation of Familial Cardiomyopathy

“…TNNI3 encoding cardiac troponin I was one of the first sarcomere genes identified with mutations resulting in FRC [84]. Since then, mutations have been reported in TNNT2, ACTC, and MYH7 among probands and families with FRC [85][86][87].…”