Buccal mucosa cells as a diagnostic tool in patients with arrhythmogenic cardiomyopathy

ConclusionOn the population level, there is a significant reduction of plakoglobin protein in BMC membranes of ACM patients but not for patients bearing the PLNR14Del mutation when compared to healthy controls. However, for clinical diagnosis of the individual patient, this method is most likely not discriminative enough to distinguish patients from healthy controls, because of the high interindividual variability.
Source: Europace - Category: Cardiology Source Type: research