Figure 1

HRM analysis of ETFDH gene. Electropherograms of various mutations: (A) c.250G > A (wild type); (B) c.250G > A (heterozygous); (C) c.383T > C (wild type); (D) c.383T > C (heterozygous); (E) Normalized and temperature-shifted difference plots, the melting profile of c.250G > A; (F) Normalized and temperature-shifted difference plots, the melting profile of c.383T > C; (G) The mutation of c.383T > C was not detected in 60 unrelated control chromosomes (wild type); (H) Affected pedigree with familial segregation of both mutations. Squares, male subjects; circles, female subjects. Affected and unaffected subjects are represented by solid and open symbols, respectively. The subject with a sample available for the present study is indicated with an asterisk.