Ontology highlight
ABSTRACT:
SUBMITTER: De Bortoli M
PROVIDER: S-EPMC5602010 | biostudies-other | 2017 Oct
REPOSITORIES: biostudies-other
European journal of human genetics : EJHG 20170712 10
Arrhythmogenic cardiomyopathy (ACM) and hypertrophic cardiomyopathy (HCM) are genetically and phenotypically distinct disorders of the myocardium. Here we describe for the first time co-inheritance of mutations in genes associated with ACM or HCM in two families with recurrence of both cardiomyopathies. Among the double heterozygotes for mutations in desmoplakin (DSP) and myosin binding protein C (MYBPC3) genes identified in Family A, two were diagnosed with ACM and two with HCM. In Family B, on ...[more]