Table 2.

MTM1 female symptomatic carriers.

Patient	Age of onset	Mutation	X-chromosome inactivation	References
1	Infancy	Del Xq27-q28	Skewedb	Dahl et al. [30]
2	Childhood	c.1261-10A>G, p.(Ser420_Arg421insPheIleGln)	Skewedb	Tanner et al. [31]
3	Childhood	c.1132G>A, p.(Gly378Arg)	Randomb	Hammans et al. [32]
4	Childhood	c.670C>T, p.(Arg224X)	Randomb,m	Sutton et al. [33]
5	Infancy	c.605delT , p.(Leu202TrpfsX48)	Randomb – Skewedm	Schara et al. [34]
6	Infancy	c.1261C>T, p.(Arg421X)	Skewedb	Jungbluth et al. [19]
7	Childhood	c.757C>T, p.(Arg253X)	Randomb,m	Grogan et al. [35]
8	Childhood	c.757C>T, p.(Arg253X)	Not informative	Grogan et al. [35]
9	Childhood	c.757C>T, p.(Arg253X)	Randomb	Grogan et al. [35]
10	Childhood	c.1354-1G>A, p.(Phe452fs)	Skewedb	Grogan et al. [35]
11	Childhood	c.1493T>A, p.(Leu498X)	Randomb,m	Penisson-Besnier et al. [36]
12	Childhood	c.1420C>T, p.(Arg474X)	Randomb	Drouet et al. [37]
13	Infancy	c.1420C>T, p.(Arg474X)	Randomb	Drouet et al. [37]
14	Adult	c.1420C>T, p.(Arg474X)	Skewedb	Drouet et al. [37]
15	Childhood	c.205_206delinsAACT, p.(Arg69AsnfsX5)	n.a.	Bevilacqua et al. [12]
16	Childhood	c.1262G>A, p.(Arg421Gln)	n.a.	Bevilacqua et al. [12]
17	Childhood	c.1234A>G, p.(Ile412_Ser420del)	n.a.	Bevilacqua et al. [12]
18	Childhood	c.867+1G>T, p.(Val227_Lys289del)	Randomm	Hedberg et al. [38]
19	Childhood	c.867+1G>T, p.[Val227_Lys289del, Val227_Lys351del]	Not informative	Hedberg et al. [38]
20	Infancy	c.417A>G, p.(=), r.(spl?)	Randomb,m,sw	Fattori et al. [15]
21	Childhood	c.118G>T, p.(Gly40X)	n.a.	pt I (this study)
22	Childhood	c.1150C>T, p.(Gln384X)	n.a.	pt IIIb (this study)
23	Adult	c.1150C>T, p.(Gln384X)	n.a.	pt IIIc (this study)
24	Infancy	c.1115T>A, p.(Leu372His)	Randomb,m,sw	pt V (this study)

b = blood; m = muscle; sw = buccal swab; n.a. = not available.