Table 1.

Human pathologies related to mutations in genes coding for nuclear lamina components

Human pathology	OMIM*	Major phenotypes	Mutated gene	Key references
Autosomal dominant Emery-Dreifuss muscular dystrophy	#181350	Early joint contractures, slowly progressive muscle weakness and wasting and cardiac involvement	LMNA, encoding lamins A and C	Bonne 1999; Bonne 2000
Autosomal recessive Emery-Dreifuss muscular dystrophy	#604929	Early joint contractures, slowly progressive muscle weakness and wasting and cardiac involvement	LMNA, encoding lamins A and C	Bonne 2000
Autosomal dominant limb girdle muscular dystrophy 1B	#159001	Progressive muscle weakness affecting both upper arms and legs	LMNA, encoding lamins A and C	Muchir 2000
Autosomal dominant dilated cardiomyopathy with conduction system defect 1A	#115200	Conduction system defects including sinus bradycardia, atrioventricular conduction block, or atrial arrhythmias. Variable skeletal muscle involvement.	LMNA, encoding lamins A and C	Fatkin 1999
Autosomal recessive Charcot-Marie-Tooth disorder type 2B1	#605588	Axonal peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss and normal or near-normal nerve conduction velocities	LMNA, encoding lamins A and C	De Sandre-Giovanni 2002
Autosomal dominant Dunnigan-type familial partial lypodystrophy	#151660	Loss of subcutaneous fat in the lower limbs and the gluteal region. Increase in subcutaneous fat in the face, neck and upper trunk. Insulin resistance and related metabolic complications, such as glucose intolerance, diabetes, dyslipidemia and hepatic steatosis.	LMNA, encoding lamins A and C	Cao and Hegele 2000; Shackleton 2000
Autosomal dominant lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy and leukemelanodermic papules	#608056	Acquired lipoatrophy with insulin-resistant diabetes, hypertriglyceridemia, hepatic steatosis, hypertrophic cardiomyopathy with valvular involvement and disseminated whitish papules	LMNA, encoding lamins A and C	Caux 2003
Autosomal recessive mandibuloacral dysplasia	#248370	Postnatal growth retardation, craniofacial anomalies, skeletal malformations and mottled cutaneous pigmentation	LMNA, encoding lamins A and C	Novelli 2002
Autosomal dominant Hutchinson-Gilford progeria syndrome	#176670	Short stature, alopecia, absence of subcutaneous fat, stiffness of joints, bone changes, musculosketal abnormalities, diabetes type II, severe atherosclerosis	LMNA, encoding lamins A and C	Eriksson 2003; De Sandre-Giovanni 2003
Autosomal dominant atypical Werners's syndrome	#277700	Loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers and osteoporosis	LMNA, encoding lamins A and C	Chen 2003
Autosomal dominant restrictive dermopathy lethal	#275210	Intrauterine growth retardation, tight and rigid skin with prominent superficial vessels, bone mineralization defects, dysplastic clavicles, arthrogryposis and early neonatal death	LMNA, encoding lamins A and C	Navarro 2004
LMNA-related congenital muscular dystrophy		Myopathy phenotype detected as early as 1 y of age. Much more rapid course than eDMD. Deficit of head support or axial muscle weakness.	LMNA, encoding lamins A and C	Quijana-roy 2008
Autosomal dominant leukodystrophy	#169500	Progressive neurological disorder characterized by symmetrical widespread myelin loss in the central nervous system	LMNB1, encoding lamin B1	Padiath 2006
Barraquer-Simons syndrome, heterozygous mutations	#608709	Acquired partial lipodystrophy	LMNB2, encoding lamin B2	Hegele 2006
Dilated cardiomyopathy	#188380	Increase in both left ventricular systolic and diastolic diameter and decrease in ejection fraction	LAP2a, encoding Lamin associated protein 2a	Taylor 2005

^*OMIM (Online Mendelian Inheritance in Man) is accessible at: http://www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM