Table 1.
Diseases Caused by Mutations in Genes Encoding Lamins and Lamin-Associated Proteins
| Striated Muscle Diseases | Gene Mutated |
|---|---|
| Emery-Dreifuss muscular dystrophy | LMNA, EDMD, SYNE1, SYNE2, TMEM43, TMPO |
| Limb-girdle muscular dystrophy | LMNA |
| Dilated cardiomyopathy | LMNA, EDMD, SYNE1, SYNE2, TMEM43, TMPO |
| Cogenital muscular dystrophy | LMNA |
| Heart-hand syndrome | LMNA |
| Lipodstrophy | |
| Dunnigan-type familial partial lipodystrophy | LMNA |
| Mandibuloacral dysplasia | LMNA, ZMPSTE24 |
| Lipoatrophy | LMNA |
| Partial Lipodystrophy | LMNB2 |
| Premature Aging | |
| Atypicial Werner Syndrome | LMNA |
| Hutchinson-Gilford Progeria Syndrome | LMNA |
| Restrictive Dermopathy | LMNA, ZMPSTE24 |
| Atypical Progeria Syndrome | BANF1 |
| Peripheral Nerve Disorders | |
| Charcotte-Marie Tooth Syndrome | LMNA |
| Adult-onset leukodystrophy | LMNB1 |
| Spinocerebellular ataxia type 8 | SYNE1 |
| Bone Diseases | |
| Buschke-Ollendorff Sydrome | LEMD3 |
| Melorheostosis | LEMD3 |
| Osteopoikilosis | LEMD3 |
| Greenberg skeletal dysplasia | LBR |
| Other | |
| Pelger-Huet Anomaly | LBR |
| Arthrogryposis | SYNE2 |