Statistics from Altmetric.com
Cardiac troponin I (TNNI3, MIM+191044) gene mutations cause both restrictive and hypertrophic cardiomyopathies in children and adults. The p.[R204H] mutation in the TNNI3 gene was described as associated with hypertrophic cardiomyopathy phenotypes.
We identified this mutation in a young female patient with pure restrictive cardiomyopathy. She first came to clinical attention at the …