Ontology highlight
ABSTRACT:
SUBMITTER: Williams T
PROVIDER: S-EPMC3222824 | biostudies-literature | 2011 Dec
REPOSITORIES: biostudies-literature
Williams Tatjana T Machann Wolfram W Kühler Leif L Hamm Henning H Müller-Höcker Josef J Zimmer Michael M Ertl Georg G Ritter Oliver O Beer Meinrad M Schönberger Jost J
Clinical research in cardiology : official journal of the German Cardiac Society 20110726 12
Two sons of a consanguineous marriage developed biventricular cardiomyopathy. One boy died of severe heart failure at the age of 6 years, the other was transplanted because of severe heart failure at the age of 10 years. In addition, focal palmoplantar keratoderma and woolly hair were apparent in both boys. As similar phenotypes have been described in Naxos disease and Carvajal syndrome, respectively, the genes for plakoglobin (JUP) and desmoplakin (DSP) were screened for mutations using direct ...[more]