Table 2

Association among type of LMNA mutations

PhenotypeMissenseIn-frame deletionSplicingFrameshift
L-CMD (n=41)34 (83.0%)6 (14.6%)1 (2.4%)0
EDMD (n=32)27 (84.4%)4 (12.5%)1 (3.1%)0
LGMD1B (n=11)9 (81.8%)002 (18.2%)
Total (n=84)70 (83.3%)10 (11.9%)2 (2.4%)2 (2.4%)
  • EDMD, Emery-Dreifuss muscular dystrophy; L-CMD, LMNA-related congenital muscular dystrophy; LGMD1B, limb-girdle muscular dystrophy type 1B.