Fig. 3.

Immunofluorescence analysis demonstrates the sarcomeric integration of truncating and missense titin variants in patients 22, 24 and 29. Cryosections of heart tissue (patients 22 and 24) and skeletal muscle (patient 29) were stained for N-terminal Z-disk titin (red; Z1Z2 antibody) and C-terminal M-band titin (green; M2, Mis6 and M8-M9 antibodies). Note that only the C-terminal epitope Mis6 is absent for patient 29, carrying two truncating mutations before the Mis6 epitope. Scale bar: 10 µm