Cardiomyopathy, Familial Hypertrophic, 17 (CMH17)

Cardiomyopathy, Familial Hypertrophic, 17, also known as hypertrophic cardiomyopathy 17, is related to 3-methylglutaconic aciduria, type v and 3-methylglutaconic aciduria, and has symptoms including dyspnea An important gene associated with Cardiomyopathy, Familial Hypertrophic, 17 is JPH2 (Junctophilin 2), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Transcriptional activation of mitochondrial biogenesis. Affiliated tissues include heart and heart-atrium, and related phenotypes are ventricular tachycardia and hypertrophic cardiomyopathy