Table 1.

Genetic mutations in patients affected by complex III disease.

Patient	Mutated gene	Reference paper	Gene mutation	Effect
#1	TTC19	Ghezzi et al., 2011	Homoz nucleotide change c.656T > G (p.Leu219X)	Truncated protein
#2	TTC19	Ghezzi et al., 2011	Homoz nucleotide change c.656T > G (p.Leu219X)	Truncated protein
#3	TTC19	Ardissone et al., 2015	Homoz rearrangement c.782_786delinsGAAAAG (p.Glu261Glyfs*8)	Frameshift with a predicted premature termination
#4	LYRM7	Dallabona et al., 2016	homoz c.193_195dup (p.L66dup)
#5	BCS1L	Fernandez-Vizarra et al., 2007	Heteroz nucleotide change c. 217C > T (p. R73C) heteroz nucleotide change c. 1102T > A (p. F368I)