Table 1.

Clinical and genetic information on subjects.

Patient ID	Mutations	Age	Patient ID	Disease	Clinical Severity	References
Control (CTRL)
CTRL - 1	N/A	21 yrs	-	-	-	51
CTRL - 2	N/A	31 yrs	-	-	-	51
CTRL - 3	N/A	54 yrs	-	-	-	51
CTRL - 4	N/A	39 yrs	-	-	-	51
CTRL - 5	N/A	53 yrs	-	-	-	U
CTRL - 6	N/A	51 yrs	-	-	-	U
CTRL - 7	N/A	51 yrs	-	-	-	U
Skeletal muscle alpha-actin patients (NEM3)
NEM3 – P1	p. Gly57Arg	7 mo	BOS922-1 | T866	NM	Typical	19
NEM3 – P2	p. Arg258His	2 mo	BOS927-1 | T865	NM	Typical	19
NEM3 – P3	p. Thr79Ala	10 mo	BOS95-1 | T77	NM	Typical	57
NEM3 – P4	p. Glu85Lys	2.8 yrs	BOS349-1 | T256	NM	Typical	57
NEM3 – P5	p. Ala274Gly	3 yrs	-	NM	Typical	57
NEM3 – P6	p. Ala206Thr	60 yrs	-	NM	Mild	4
NEM3 – P7	p. Gly270Cys	4 yrs	-	NM	Chilhood onset	58
NEM3 – P8	p. Val165Met	65 yrs	-	NM	Mild	59
NEM3 – P9	p. Asn117Ser	17 yrs	-	NM	Chilhood onset	58
NEM3 – P10	p. Asp186His	1 mo	-	NM	Severe	2
NEM3 – P11	p. Arg198Cys	5 yrs	-	NM	Severe	U
NEM3 – P12	p. Ile138Met	23 yrs	-	NM	Typical	60
NEM3 – P13	p. Glu119Gln	1 yr	-	NM	Severe	U
NEM3 – P14	p. Arg185Cys	41 yrs	-	NM	Mild	61

U: unpublished