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Figure 2 1) Family A: mutation E111X; 2) Family B: mutation K97E; 3) Family C: CTGC insertion at 2,869 of the cDNA; 4) Family D: mutation R190W; 5) Family E: mutation E317K. Filled symbols = patients; open symbols = non-affected subjects; question marks within symbols = non-proven affected subjects. Small squares within symbols = atrioventricular block (upper left), left ventricular dilation (upper right). Diagonal lines = death. The probands are indicated by arrows. The presence (+) or absence (–) of the mutation is indicated for the genetically tested family members. Chromatograms below each pedigree demonstrate the heterozygous mutations.





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