Table 1 NM-causing NEB mutations included in the study

Neb ex53-57 (super repeat 9) in figures ex54m

c.7291G > A

p.Glu2431Lys

NM, mild form

Lehtokari et al. [18]

Neb ex53-57 (super repeat 9) in figures ex55del

c.7432 + 1916_7535 + 372del

p.Arg2478_Asp2512del

NM, severe, intermediate and typical forms

Lehtokari et al. [18]

Neb ex 77–81 (super repeat 14) in figures ex78del or ex78m

c.11770_11787del

p.Val3924_Asn3929del

NM, mild form

Lehtokari et al. [18]

Neb ex 119–125 (super repeat 18) in figures ex122m

c.19097G > T

p.Ser6366Ile

NM, typical form, distal myopathy

Lehtokari et al. [18]

Neb ex 146–153 (super repeat 22) in figures 151m

c.22144A > C

p.Thr7382Pro

NM, typical form, distal myopathy

Lehtokari et al. [18], Wallgren-Pettersson et al. [14]