Table 1.

Demographics, GNE mutations, muscle type and fluorescence quantitation per biopsy

Donor	Age (y)	Sex	GNE Mutations *	Muscle Biopsied †	No. Cells in Biopsy ‡	Avg cell length §	SNA Area/Cav-3 Area ‖ (per avg cell length) ¶	SNA/CAV-3 Total Intensity ‖ (per avg cell length) ¶
Control Group:
C1	27	Male	Normal	biceps branchii (L)	5,338	23.26	4,988,767 (214,505)	2,141,539,604 (92,080,962)
C2	42	Female	Normal	biceps branchii (L)	6,146	18.44	4,585,638 (248,657)	1,298,005,973 (70,384,594)
C3	32	Female	Normal	biceps branchii (L)	3,137	16.80	2,791,129 (166,133)	882,982,901 (52,556,721)
C4	31	Male	Normal	biceps branchii (L)	13,304	17.94	10,202,823 (568,718)	3,138,608,250 (174,949,970)
				Average:	6,981	19.11	5,642,089 (299,503)	1,865,284,182 (97,493,062)
GNE Myopathy Group:
GNE-M1	27	Male	p.V603L/ p.V603L	biceps branchii (L)	1,393	11.53	816,286 (70,798)	367,144,808 (31,843,163)
GNE-M2	29	Male	p.V603L/p.V603L	biceps branchii (L)	7,332	17.46	5,328,311 (305,148)	1,391,871,694 (79,711,274)
GNE-M3	24	Male	p.V603L/p.A622T	biceps branchii (L)	3,114	16.14	1,936,055 (119,976)	816,679,955 (50,608,913)
GNE-M4	55	Male	p.D207V/pV603L	triceps branchii (L)	1,223	23.14	1,404,210 (60,683)	540,816,086 (23,371,399)
GNE-M5	40	Female	p.D207V/p.K458N #	hamstring (R)	3,318	23.81	3,831,255 (160,939)	1,529,534,462 (64,251,094)
GNE-M6	39	Female	p.D207V/p.V603L	tibialis anterior (R)	2,600	21.06	2,279,575 (108,224)	819,170,403 (38,890,517)
				Average:	3,163	18.86	2,599,282 (137,628)	910,869,568 (48,112,727)

^*Mutation nomenclature according to GNE2 isoform GenBank NP_001121699.

^†L, left; R, right.

^‡Manually determined, using ImageJ software.

^§Avg = average. As calculated by Image J software, see text for details.

^‖Area or Intensity of fluorescence (in pixels) determined by Definiens Architect software.

^¶Plotted in Figure 2.

^#p.K458N is a novelGNE variant (disease causing by MutationTaster, deleterious by SIFT, benign by polyphen, CADD_phred score of 25).