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D1275N SCN5A mutation in a patient with sinus node dysfunction, atrial flutter, and conduction disease. A, Pedigree. The proband is indicated by the arrow. Individuals carrying the mutation are indicated (+). Individuals tested negative for the mutation are indicated (ā). A filled symbol indicates phenotype positive. B, Electrocardiogram and rhythm strips in the proband. C, Heterozygous single-nucleotide change in SCN5A (c.3823GāA) resulting in p.D1275N.
