Ontology highlight
ABSTRACT:
SUBMITTER: Hagen CM
PROVIDER: S-EPMC3893158 | biostudies-literature | 2013 May
REPOSITORIES: biostudies-literature
Hagen Christian M CM Aidt Frederik H FH Havndrup Ole O Hedley Paula L PL Jespersgaard Cathrine C Jensen Morten M Kanters Jørgen K JK Moolman-Smook Johanna C JC Møller Daniel V DV Bundgaard Henning H Christiansen Michael M
Molecular genetics & genomic medicine 20130412 1
Mitochondrial dysfunction is a characteristic of heart failure. Mutations in mitochondrial DNA, particularly in MT-CYB coding for cytochrome B in complex III (CIII), have been associated with isolated hypertrophic cardiomyopathy (HCM). We hypothesized that MT-CYB mutations might play an important causal or modifying role in HCM. The MT-CYB gene was sequenced from DNA isolated from blood from 91 Danish HCM probands. Nonsynonymous variants were analyzed by bioinformatics, molecular modeling and si ...[more]