Article
Isolated cardiac sarcoidosis associated with the expression of a splice variant coding for a truncated BTNL2 protein.
Cardiology - 1 Jan 2008
Meyer Thomas, Lauschke Jörg, Ruppert Volker, Richter Anette, Pankuweit Sabine, Maisch Bernhard
Abstract excerpt
A 33-year-old woman presented with clinical signs of heart failure and previously diagnosed complete atrioventricular block. DNA sequencing revealed a homozygous point mutation in exon 5 of the btnl2 gene coding for a truncated protein which lacks the membrane-anchoring motif. This single nucleotide polymorphism is known to be a risk factor for sarcoidosis. Indeed, endomyocardial biopsy demonstrated multiple...
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