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Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Chun, 1995	Case report/Case series	5	n.a.	100%	n.a.	p.Gln389Serfs*9: n.a. p.Arg263Gly: n.a. p.Arg72Cys: n.a.
Fujii, 1994	Family study	1	n.a.	0%	n.a.	p.Arg127Trp: het
De Meirleir, 1994	Family study	1	n.a.	100%	2	p.Gly185Gly: n.a.
Chun, 1993	Case report/Case series	2	n.a.	100%	n.a.	p.Ala199Thr: n.a. p.Arg263Gly: n.a.
Wexler, 1992	Case report/Case series	2	n.a.	100%	2(+/-0)	p.Arg235Gly: n.a.