Fig. 2

Genetic and yeast studies. a, b, c: Pedigrees and electropherograms showing the mutations found in this study: families of proband P1 (panel a), proband P2 (panel b) and proband P3 (panel c). d: Strains lacking MGM1 and transformed with either wt OPA1 hybrid allele or individual mutants p.Ala394Thr, p.Val988Phe, p.Ile437Met or empty vector were grown on YP medium supplemented with glycerol. Cells were plated after serial dilutions. Picture was taken after 4 days of growth. Numbering of amino acids in the yeast hybrid genes refers to the corresponding human counterpart (NM_130837.2; NP_570850.2)