Key result
Cardiac troponin I (TNNI3) mutations, specifically an Asp190Gly substitution, segregate with idiopathic restrictive cardiomyopathy in affected families (maximal two-point lod score 4.8).
Population
Family with idiopathic restrictive cardiomyopathy
Design
Other
Authors
Loading...
May inform genetic evaluation of familial restrictive cardiomyopathy; extends the TNNI3 disease spectrum.
Demonstrates that idiopathic restrictive cardiomyopathy can be part of the clinical expression of cardiac troponin I (TNNI3) mutations.
Mogensen et al. (2003) studied this question. Cardiac troponin I (TNNI3) mutations, specifically an Asp190Gly substitution, segregate with idiopathic restrictive cardiomyopathy in affected families (maximal two-point lod score 4.8).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: