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A three-generation family tree of family A is shown. The index patient is A.III.3. The clinically affected patients are marked in black. Patients A.II.4, A.II.5 and A.II.6 are deceased. The c.316G>A pathogenic variant in TNNT2 segregated with disease in the genotyped individuals. Family members who have not been genetically tested are labelled n.t—“not tested”.
