Table 3

Association between lamin A/C domains and phenotypes

PhenotypeHeadCoil1ACoil1BCoil2ACoil2BIg-likeL12L2L2NTail
L-CMD (n=41)8 (19.5%)4 (9.8%)1 (2.4%)13 (31.7%)5 (12.2%)6 (14.6%)004 (9.8%)0
EDMD (n=32)3 (9.4%)2 (6.3%)1 (3.1%)2 (6.3%)10 (31.4%)11 (34.4%)02 (6.3%)1 (3.1%)0
LGMD1B (n=11)1 (9.1%)0003 (27.3%)4 (36.3%)1 (9.1%)02 (18.2%)0
Total (n=84)12 (14.3%)6 (7.1%)2 (2.4%)15 (17.9%)18 (21.4%)21 (25.0%)1 (1.2%)2 (2.4%)7 (8.3%)0
  • EDMD, Emery-Dreifuss muscular dystrophy; Ig, immunoglobulin; L2, Linker of coil 2A and 2B; L12, linker of coil 1B and 2A; L-CMD, LMNA-related congenital muscular dystrophy; LGMD1B, limb-girdle muscular dystrophy type 1B; L2N, linker of coil 2B and NLS; NLS, nuclear location signal.