Ontology highlight
ABSTRACT:
SUBMITTER: Gehmlich K
PROVIDER: S-EPMC3058729 | biostudies-literature | 2011 Apr
REPOSITORIES: biostudies-literature
Gehmlich Katja K Syrris Petros P Peskett Emma E Evans Alison A Ehler Elisabeth E Asimaki Angeliki A Anastasakis Aris A Tsatsopoulou Adalena A Vouliotis Apostolos-Ilias AI Stefanadis Christodoulos C Saffitz Jeffrey E JE Protonotarios Nikos N McKenna William J WJ
Cardiovascular research 20101109 1
<h4>Aims</h4>Recent immunohistochemical studies observed the loss of plakoglobin (PG) from the intercalated disc (ID) as a hallmark of arrhythmogenic right ventricular cardiomyopathy (ARVC), suggesting a final common pathway for this disease. However, the underlying molecular processes are poorly understood.<h4>Methods and results</h4>We have identified novel mutations in the desmosomal cadherin desmocollin 2 (DSC2 R203C, L229X, T275M, and G371fsX378). The two missense mutations (DSC2 R203C and ...[more]