Ontology highlight
ABSTRACT:
SUBMITTER: Montag J
PROVIDER: S-EPMC5859159 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Montag J J Petersen B B Flögel A K AK Becker E E Lucas-Hahn A A Cost G J GJ Mühlfeld C C Kraft T T Niemann H H Brenner B B
Scientific reports 20180319 1
Familial Hypertrophic Cardiomyopathy (HCM) is the most common inherited cardiac disease. About 30% of the patients are heterozygous for mutations in the MYH7 gene encoding the ß-myosin heavy chain (MyHC). Hallmarks of HCM are cardiomyocyte disarray and hypertrophy of the left ventricle, the symptoms range from slight arrhythmias to sudden cardiac death or heart failure. To gain insight into the underlying mechanisms of the diseases' etiology we aimed to generate genome edited pigs with an HCM-mu ...[more]