Phenotype | Missense | In-frame deletion | Splicing | Frameshift |
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%) | 0 | 0 | 2 (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.