August 9, 2007Heart
Pure restrictive cardiomyopathy associated with cardiac troponin I gene mutation: mismatch between the lack of hypertrophy and the presence of disarray
Population
1 young female patient with pure restrictive cardiomyopathy and the p.[R204H] mutation in the TNNI3 gene
Design
Case_report
Authors
Discussion
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Member takes
Implication
p.[R204H] TNNI3 mutation identified in pure restrictive cardiomyopathy; extends phenotypic spectrum but leaves genotype-phenotype correlations open.
Structured PICO
P
Population
1 young female patient with pure restrictive cardiomyopathy and the p.[R204H] mutation in the TNNI3 gene
This case expands the phenotypic spectrum of the TNNI3 p.[R204H] mutation to include pure restrictive cardiomyopathy.
Cite This Study
Gambarin et al. (2007) studied this question.