Table 1: Brain Stem Auditory Evoked Potentials (BAEP) in XY Patients with GJA12-Related

Table e-4:Nerve conduction studies (NCS)in 10 patients with GJA12-related PMLD (cohort A) and six boys with PMD (cohort B) with age-matched normal values [mean ± SD]10

PatientAgeMotor NCSSensory NCS

[years]NerveNCVAmpl.NerveNCVAmpl.

[m/s][mV][m/s][µV]______

PMLD patients

A1 4ulnarR5712median R56110

[56.9 ± 4.3][8.8 ± 2.4][41.0 ± 4.9][19.8 ± 4.2]

peroneal R536sural R4615

[49.6 ± 5.0][7.1 ± 1.2][39.4 ± 4.6][18.5 ± 3.9]

11ulnarL6916median L65145

[58.3 ± 5.8][10.3 ± 2.0][43.7 ± 3.4][20.5 ± 3.5]

peroneal L628sural L6117

[49.6 ± 3.4][7.2 ± 1.6][40.6 ± 4.8][18.7 ± 4.4]

A29ulnar L507median L4162

[58.3 ± 5.8][10.3 ± 2.0][43.7 ± 3.4][20.5 ± 3.5]

peroneal L486sural L4744

[49.6 ± 3.4][7.2 ± 1.6][40.6 ± 4.8][18.7 ± 4.4]

10ulnarR5710median R50100

[58.3 ± 5.8][10.3 ± 2.0][43.7 ± 3.4][20.5 ± 3.5]

peroneal R433*sural L5026

[49.6 ± 3.4][7.2 ± 1.6][40.6 ± 4.8][18.7 ± 4.4]

13peroneal L508sural L4625

[49.6 ± 3.4][7.2 ± 1.6][40.6 ± 4.8][18.7 ± 4.4]

18ulnarL5618median L63117

[58.8 ± 3.3][12.7 ± 2.1][47.4 ± 4.7][23.7 ± 5.0]

peroneal L6018

[48.8 ± 3.5][8.7 ± 2.1]

A322/12peroneal L514sural L4430

[48.7 ± 4.9][6.4 ± 1.9][35.4 ± 4.3][18.0 ± 3.8]

A49tibial R42*7*sural R6819

[48.2 ± 2.8][15.8 ± 1.8][40.6 ± 4.8][18.7 ± 4.4]

A58median L638median L5974

[57.2 ± 3.7][8.8 ± 1.9][43.7 ± 3.4][20.5 ± 3.5]

ulnar L6413

[58.3 ± 5.8][10.3 ± 2.0]

ulnar R6510

[58.3 ± 5.8][10.3 ± 2.0]

peroneal L504sural L5212

[49.6 ± 3.4][7.2 ± 1.6][40.6 ± 4.8][18.7 ± 4.4]

peroneal R514

[49.6 ± 3.4][7.2 ± 1.6]

A614ulnarL6914median L61132

[58.3 ± 5.8][10.3 ± 2.0][43.7 ± 3.4][20.5 ± 3.5]

peroneal L577sural L5228

[49.6 ± 3.4][7.2 ± 1.6][40.6 ± 4.8][18.7 ± 4.4]

A720median L588median L4326

[57.8 ± 2.6][10.5 ± 3.7][47.4 ± 4.7][23.7 ± 5.0]

median R609median R6434

[57.8 ± 2.6][10.5 ± 3.7][47.4 ± 4.7][23.7 ± 5.0]

tibial L39*10

[49.8 ± 4.4][14.9 ± 3.4]

tibial R37*9

[49.8 ± 4.4][14.9 ± 3.4]

peroneal L40*5

[48.8 ± 3.5][8.7 ± 2.1]

peroneal R434*

[48.8 ± 3.5][8.7 ± 2.1]

23median L49*8median L5728

[57.8 ± 2.6][10.5 ± 3.7][47.4 ± 4.7][23.7 ± 5.0]

median R47*4*median R5433

[57.8 ± 2.6][10.5 ± 3.7][47.4 ± 4.7][23.7 ± 5.0]

tibial L4410

[49.8 ± 4.4][14.9 ± 3.4]

tibial R425*

[49.8 ± 4.4][14.9 ± 3.4]

peroneal L495

[48.8 ± 3.5][8.7 ± 2.1]

peroneal R473*

[48.8 ± 3.5][8.7 ± 2.1]

A816median L547median L5648

[57.2 ± 3.7][8.8 ± 1.9][43.7 ± 3.4][20.5 ± 3.5]

median R546median R5454

[57.2 ± 3.7][8.8 ± 1.9][43.7 ± 3.4][20.5 ± 3.5]

tibialL477*

[48.2 ± 2.8][15.8 ± 1.8]

tibial R4512.3

[48.2 ± 2.8][15.8 ± 1.8]

peroneal L446

[49.6 ± 3.4][7.2 ± 1.6]

peroneal R496

[49.6 ± 3.4][7.2 ± 1.6]

A911peroneal R536sural R5728

[49.6 ± 3.4][7.2 ± 1.6][40.6 ± 4.8][18.7 ± 4.4]

peroneal L484sural L5716

[49.6 ± 3.4][7.2 ± 1.6][40.6 ± 4.8][18.7 ± 4.4]

tibial R5513

[48.2 ± 2.8][15.8 ± 1.8]

tibial L4614

[48.2 ± 2.8][15.8 ± 1.8]

A1012median R6710median R5677

[57.2 ± 3.7][8.8 ± 1.9][43.7 ± 3.4][20.5 ± 3.5]

ulnar R5816ulnar R6049

[58.3 ± 5.8][10.3 ± 2.0][43.9 ± 3.9][14.3 ± 2.5]

peroneal R554sural R5717

[49.6 ± 3.4][7.2 ± 1.6][40.6 ± 4.8][18.7 ± 4.4]

peroneal L514sural L5320

[49.6 ± 3.4][7.2 ± 1.6][40.6 ± 4.8][18.7 ± 4.4]

tibial R5910*

[48.2 ± 2.8][15.8 ± 1.8]

tibial L5412.5

[48.2 ± 2.8][15.8 ± 1.8]

______

PMD patients

B18/12ulnar L588median L3760

[47.2 ± 6.3][7.0 ± 1.9][32.6 ± 3.2][17.6 ± 1.7]

peroneal L465sural L405*

[40.8 ± 6.2][5.9 ± 1.1][29.4 ± 3.6][14.9 ± 4.7

B210/12ulnar L504median L4374

[47.2 ± 6.3][7.0 ± 1.9][32.6 ± 3.2][17.6 ± 1.7]

peroneal L473*

[40.8 ± 6.2][5.9 ± 1.1]

2ulnar L578median L4587

[53.8 ± 4.8][7.7 ± 2.2][36.4 ± 3.9][19.5 ± 4.0]

peroneal L485sural L4418

[48.7 ± 4.9][6.4 ± 1.9][35.4 ± 4.3][18.0 ± 3.8]

B319/12ulnar R526median R4283

[53.8 ± 4.8][7.7 ± 2.2][36.4 ± 3.9][19.5 ± 4.0]

peroneal R505sural R4339

[48.7 ± 4.9][6.4 ± 1.9][35.4 ± 4.3][18.0 ± 3.8]

4ulnar L588median L4562

[56.9 ± 4.3][8.8 ± 2.4][41.0 ± 4.9][19.8 ± 4.2]

peroneal L594*sural L5552

[49.6 ± 5.0][7.1 ± 1.2][39.4 ± 4.6][18.5 ± 3.9]

B55ulnar L495median L4680

[56.9 ± 4.3][8.8 ± 2.4][41.0 ± 4.9][19.8 ± 4.2]

ulnar R486median R4970

[56.9 ± 4.3][8.8 ± 2.4][41.0 ± 4.9][19.8 ± 4.2]

peroneal L434*sural L3612

[49.6 ± 5.0][7.1 ± 1.2][39.4 ± 4.6][18.5 ± 3.9]

peroneal R413*

[49.6 ± 5.0][7.1 ± 1.2]

B74ulnar L587median L4036

[56.9 ± 4.3][8.8 ± 2.4][41.0 ± 4.9][19.8 ± 4.2]

peroneal L626sural L4853

[49.6 ± 5.0][7.1 ± 1.2][39.4 ± 4.6][18.5 ± 3.9]

B818/12peroneal L514

[48.7 ± 4.9][6.4 ± 1.9]

NCV = nerve conduction velocity; L = left; R = right; * = value below mean - 2 SD, according to reference #10