|
Lamin A
|
Hutchinson-Gilford progeria syndrome
|
Deleted 50 a.a. at carboxyl terminal
|
[63]
|
| |
Atypical Werner syndrome
|
A57P, R133L, L140R
|
[64]
|
| |
Emery-Dreifuss muscular dystrophy, type 2
|
missense mutations
|
[65]
|
| |
Emery-Dreifuss muscular dystrophy, type 3
|
H222Y
|
[66]
|
| |
Limb-gridle muscular dystrophy type 1B
|
missense mutations
|
[67]
|
| |
Dilated cardiomyopathy, type 1A
|
missense mutations in exons 1 or 3
|
[68]
|
| |
Charcot-Marie-Tooth disorder type 2B1
|
R298C
|
[69]
|
| |
Familial partial lipodystrophy, Dunnigan type
|
missense mutations in exons 8 and 11
|
[70, 71]
|
| |
Mandibuloacral dysplasia
|
R527H, K542N, A529V, R527C/R471C
|
[72]
|
| |
Restrictive dermopathy
|
partial loss of exon 11
|
[73]
|
| |
Generalized lipoatrophy/lipodystrophy
|
R133L and T10I
|
[74]
|
|
Emerin
|
X-linked Emery-Dreifuss muscular dystrophy
|
S54F, P183T, P183H, Del95-99, Del236-241
|
[75, 76]
|
|
Lamin B receptor
|
Pelger-Huët anomaly
|
defective splicing
|
[12]
|
