Figure 2.

Histologic and immunohistological changes in the presence of desmosomal mutations. A: Sequence electropherogram of the heterozygous deletion in exon 16 of DSC2 (c. 2553 delA, top) and of a heterozygous nucleotide change in exon 11 of DSG2 (c. 1550 C>T, bottom) in the index patient (open arrows,left) compared to a control individual (right). B: Interstitial and replacement fibrosis in a myocardial sample of the patient (original magnification ×40). C: Confocal immunofluorescence microscopy analysis of nonfailing control tissue and a myocardial sample from the index patient. The plakoglobin signal is strongly reduced at the intercalated disks of the index patient, whereas the adherens junction protein N-cadherin can be abundantly detected at the intercalated disks of both samples (see also Figure S3). Scale bar at lower left in each panel represents 10 μm.