Condition: Centronuclear myopathy


rs794729338 in TTN-AS1;TTN gene and Centronuclear myopathy PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

rs1553742630 in TTN;TTN-AS1 gene and Centronuclear myopathy PMID 25589632 2015 Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.