Figure 1: Southern blot of EcoRI-digested genomic DNA in family 2, using probe p13E-11. In proband (№ 66), proband’s brother (№ 34) and proband’s niece (№ 35) the EcoRI fragment sizes of 37 kb were revealed, respectively. In presymptomatic proband’s relatives (№ 27, 29, 30, 31) as well as in other proband’s relatives (№ 26, 28, 32, 33, 36) the EcoRI fragment sizes more than 50 kb were found.