MDSGene

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
João Silva, 2009	Case report/Case series	1	C	100%	2	p.Arg235Gly: n.a.
Sedel, 2008	Case report/Case series	1	n.a.	100%	2	p.Glu75Ala: n.a.
Debray, 2008	Case report/Case series	2	n.a.	100%	2(+/-1)	p.Gly195Ala: n.a.
Okajima, 2006	Case report/Case series	1	n.a.	100%	0	p.Val171Argfs*52: n.a.
Head, 2004	Case report/Case series	2	C	50%	5(+/-1)	p.Arg72Cys: n.a. p.Arg378His: het
Cameron, 2004	Case report/Case series	6	n.a.	83%	n.a.	c.(1158+1_1159-1)_(1162+1_1163-1)dup: n.a. p.Leu138Phe: n.a. p.Gly195Ala: n.a. p.Arg302Cys: het Show more (+1)
Miné, 2003	Case report/Case series	1	n.a.	100%	1	c.759+26G>A: n.a.
Naito, 2002	Case report/Case series	1	n.a.	100%	2	p.Leu216Phe: n.a.
De Meirleir, 1998	Case report/Case series	1	n.a.	100%	2	c.1074_1107delins: n.a.
Fujii, 1996	Case report/Case series	2	n.a.	100%	1	c.975_976insGGACAGGATGGTGAA: n.a. p.S388ins: n.a.