Extended pedigree details of families M and Z. Individuals presenting with skeletal muscle disease are indicated in black. Cardiac involvement is indicated by gray/dotted symbols. Segregation of the familial SRPK3 (S) and TTN (T) variants is shown. S + T indicates cosegregating SRPK3 / TTN variants; WT indicates both SRPK3 and TTN WT alleles. Individuals ZIV:1, ZIV:4, ZIV:6 and ZIV:7 carry the familial TTN variant (p.Arg16905*) previously reported in association with DCM (ref. 19 ) but are presymptomatic at ages 52, 44, 40 and 38 years old, respectively. Likewise, individual MIII:2 carries the familial TTN variant (p.Asp28805Metfs*6) but is also presymptomatic at age 46 years old.
