Fig. 3.

Representative images of buccal mucosa smears from a control and 3 asymptomatic children bearing desmosomal gene mutations. Two of the children are bearing autosomal dominant mutations in PKP2 and one is homozygous for a recessive mutation in JUP. All children have no clinical manifestation of ACM and they showed normal distribution for PG, Cx43, DSP and PKP1 in their buccal epithelium, indistinguishable from controls in both sets of samples (~18 months apart). Cell nuclei (blue) are stained with DAPI.