TABLE 1.
Laminopathies
| Disease | GENE (protein) affected | Clinical relevance | Refs |
|---|---|---|---|
| Hutchinson-Gilford progeria syndrome | LMNA (lamin A) | Premature ageing, impaired growth, alopecia, loss of subcutaneous body fat, atherosclerosis | 90 |
| Emery-Dreifuss muscular dystrophy | LMNA EMD (emerin) | Progressive loss of skeletal muscle, cardiomyopathy, muscle contractures | 138, 139 |
| Charot-Marie-Tooth disease | LMNA | Motor defects in lower limbs, foot deformities and loss of tendon reflexes in lower limbs | 140 |
| Atypical Werner syndrome | LMNA | Premature ageing apparent in early adults, cataracts, atherosclerosis | 141 |
| Limb girdle muscular dystrophy | LMNA | Progressive weakening of shoulder and pelvic muscles, muscle contractures, cardiac arrhythmia | 142 |
| Dilated cardiomyopathy | LMNA | Ventricular dilation, cardiac arrhythmia | 143 |
| Dunnigan-type familial partial lipodystrophy | LMNA | Loss of adipose tissue, insulin-resistant diabetes, atherosclerosis | 144 |
| Mandibuloacral dysplasia | LMNA | Mandibular hypoplasia, delayed cranial development, dental crowding, impaired growth, loss of adipose tissue | 145 |
| Restricted dermopathy | LMNA, ZMPSTE24 | Microstomia, pulmonary hypoplasia | 146, 147 |
| Barraquer-Simons syndrome | LMNB2 (lamin B2) | Loss of adipose tissue, more frequent in females (4:1) | 148 |
| Autosomal dominant leukodystrophy | LMNB2 | Progressive demyelination of central nervous system leading to cerebellar dysfunction | 149 |
| Greenberg dysplasia | LBR (lamin B receptor) | Severe skeletal abnormalities, polydactyly, leads to prenatal death | 150 |
| Pelger-Huet anomaly | LBR | Heterozygous mutation results in benign hypolobulation of granulocyte nuclei; homozygous mutations lead to skeletal abnormalities | 151, 152 |