Table 1. Mutations in SDHA.

Patient	DNA	RNA	Protein
P1	c.356 G>A	r.356g>a	p.Trp119*, NMD
	c.248 C>T	Incomplete r.247_312del	p. Ala83_Gln104del (unstable) and residual full length protein
P2	c.91C>T	r.91c>u	p.Arg31*, NMD
	c.565T>G	r.565u>g	p.Cys189Gly
P3	c.1065-3C>A (homozygous)	Incomplete r.1065_1260del (exon 9 skipping)	NMD due to frameshift and residual full-length protein
P4	c.64-2A>G (homozygous)	r.64_73del and r.[63_64ins64-54_64-1;64-2a>g]	NMD due to frameshift and 18AA insertion

Abbreviation: NMD, nonsense-mediated mRNA decay.

Novel mutations are underlined.