Fig. 1.

Mutation analysis of ETFDH in three MADD families. a) Schematic of the human ETFDH gene structure with the three novel mutations (c.229G>A, c.1157G>A, c.1450T>C) detected in this study marked with asterisks. b) Segregation of heterozygous missense mutations in Family 1 (F1), Family 2 (F2) and Family 3 (F3). c) Population frequencies and in silico predictions for detected mutations. d) Depiction of the DNA and protein changes, with the mutations marked with red arrows and the corresponding amino acid changes in red. E) The four missense mutations are conserved across species. D: Damaging. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)