Table 1.

Summary of point mutations identified to date in LSDMCA.

Gene	Gene OMIM#	Nucleotide Change	Type of Mutation	Predicted Protein	Disease Symbol	Disease OMIM#	Ref
HCCS	300056	c.589C>T	Nonsense	p.R197* a	MLS/	309801	[2,13,14]
		c.649C>T	Missense	p.R217C	MIDAS
		c.475G>A	Missense	p.E159K	MCOPS7
		c.[=/524_525delAG]	Frameshift	p.[=/E175Vfs*30]	LSDMCA1
COX7B	300885	c.196delC	Frameshift	p.L66Cfs*48	LSDMCA2	300887	[3]
		c.41-2A>G	Frameshift	p.V14Gfs*19
		c.55C>T	Nonsense	p.E19*
NDUFB11	300403	c.262C>T	Nonsense	p.Arg88*	LSDMCA3	300952	[4]
		c.402delG	Frameshift	p.Arg134Serfs*3

^a This mutation was identified in two different patients (see also Table S1). Ref, references.