Journal
INTERNATIONAL JOURNAL OF CARDIOLOGY
Volume 131, Issue 3, Pages 410-412Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.ijcard.2007.07.108
Keywords
Restrictive cardiomyopathy; Troponin I; Mutation; Patient
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Funding
- Swedish Heart-Lung Foundation
- Stiftelsen Frimurare Barnhuset
- Sallskapet Barnavard
- Ronald MacDonald Child Fund
- Sunnerdahls Handikappfond
- Konung Gustav Voch Drottning Victorias Stiftelse
- KIRT ( Swedish Institute)
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In dilated and hypertrophic cardiomyopathies, over ten disease-causing genes have been identified in each entity. In contrast, mutations in only desmin and cardiac troponin T and I ( TNNI3) have been shown to cause restrictive cardiomyopathy ( RCM). We applied a candidate gene approach and identified a novel one nucleotide deletion, resulting in frame shift and predicted formation of a premature stop codon, deletion of part of exon 7 and all exon 8, and truncation of significant C-terminal portion of TNNI3. Western blot analysis showed approximately 50% reduction of total troponin I content in myocardial tissue. The clinical hallmark was a restrictive type of cardiac hemodynamics, and congestive heart failure, leading to the death of the patient at the age of 28.
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