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Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations
Jens Mogensen,1 Toru Kubo,1,2 Mauricio Duque,3 William Uribe,3 Anthony Shaw,1 Ross Murphy,1 Juan R. Gimeno,1 Perry Elliott,1 and William J. McKenna1
1Department of Cardiological Sciences, St. George’s Hospital Medical School, London, United Kingdom2 Departamento de Cardiologia, Clinica Medellin, Medellin, Colombia3 Department of Medicine and Geriatrics, Kochi Medical School, Japan
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1Department of Cardiological Sciences, St. George’s Hospital Medical School, London, United Kingdom2 Departamento de Cardiologia, Clinica Medellin, Medellin, Colombia3 Department of Medicine and Geriatrics, Kochi Medical School, Japan
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1Department of Cardiological Sciences, St. George’s Hospital Medical School, London, United Kingdom2 Departamento de Cardiologia, Clinica Medellin, Medellin, Colombia3 Department of Medicine and Geriatrics, Kochi Medical School, Japan
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1Department of Cardiological Sciences, St. George’s Hospital Medical School, London, United Kingdom2 Departamento de Cardiologia, Clinica Medellin, Medellin, Colombia3 Department of Medicine and Geriatrics, Kochi Medical School, Japan
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1Department of Cardiological Sciences, St. George’s Hospital Medical School, London, United Kingdom2 Departamento de Cardiologia, Clinica Medellin, Medellin, Colombia3 Department of Medicine and Geriatrics, Kochi Medical School, Japan
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1Department of Cardiological Sciences, St. George’s Hospital Medical School, London, United Kingdom2 Departamento de Cardiologia, Clinica Medellin, Medellin, Colombia3 Department of Medicine and Geriatrics, Kochi Medical School, Japan
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1Department of Cardiological Sciences, St. George’s Hospital Medical School, London, United Kingdom2 Departamento de Cardiologia, Clinica Medellin, Medellin, Colombia3 Department of Medicine and Geriatrics, Kochi Medical School, Japan
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1Department of Cardiological Sciences, St. George’s Hospital Medical School, London, United Kingdom2 Departamento de Cardiologia, Clinica Medellin, Medellin, Colombia3 Department of Medicine and Geriatrics, Kochi Medical School, Japan
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1Department of Cardiological Sciences, St. George’s Hospital Medical School, London, United Kingdom2 Departamento de Cardiologia, Clinica Medellin, Medellin, Colombia3 Department of Medicine and Geriatrics, Kochi Medical School, Japan
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Published March 15, 2003 - More info
J Clin Invest. 2003;111(6):925–925. https://doi.org/10.1172/JCI16336C1.
© 2003 The American Society for Clinical Investigation
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Abstract
Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired filling of the ventricles with reduced volume in the presence of normal or near normal wall thickness and systolic function. The disease may be associated with systemic disease but is most often idiopathic. We recognized a large family in which individuals were affected by either idiopathic RCM or hypertrophic cardiomyopathy (HCM). Linkage analysis to selected sarcomeric contractile protein genes identified cardiac troponin I (TNNI3) as the likely disease gene. Subsequent mutation analysis revealed a novel missense mutation, which cosegregated with the disease in the family (lod score: 4.8). To determine if idiopathic RCM is part of the clinical expression of TNNI3 mutations, genetic investigations of the gene were performed in an additional nine unrelated RCM patients with restrictive filling patterns, bi-atrial dilatation, normal systolic function, and normal wall thickness. TNNI3 mutations were identified in six of these nine RCM patients. Two of the mutations identified in young individuals were de novo mutations. All mutations appeared in conserved and functionally important domains of the gene.
Authors
Jens Mogensen, Toru Kubo, Mauricio Duque, William Uribe, Anthony Shaw, Ross Murphy, Juan R. Gimeno, Perry Elliott, William J. McKenna
Original citation: J. Clin. Invest.111:209–216 (2003). doi:10.1172/JCI16336.
Citation for this corrigendum: J. Clin. Invest.111:925 (2003). doi:10.1172/JCI16336C1.
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.
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