Chromatin states and nuclear organization in development — a view from the nuclear lamina

Table 2 Classification of the laminopathies^a

Affected tissue/phenotype	Disease	Full name/description	OMIM code
Muscle	EDMD2	Autosomal-dominant Emery–Dreifuss muscular dystrophy	#181350
	EDMD3	Autosomal-recessive Emery–Dreifuss muscular dystrophy	#604929
	LGMD1B	Limb girdle muscular dystrophy type 1B	#159001
	CMD1A	Dilated cardiomyopathy 1A	#115200
	CCD	Cardiac and conduction defect
	AD-SMA	Autosomal-dominant spinal muscular atrophy
	LAF	Lone atrial fibrillation
		Generalized muscular dystrophy and/or cardiomyopathy phenotype
		dropped head syndrome
Fat	FPLD1	Familiar partial lipodystrophy TYPE 1	#608600
	FPLD2	Familiar partial lipodystrophy TYPE 2	#151600
		Generalized lipodystrophy phenotype
Neuronal	CMT2B1	Charcot-Marie-Tooth type 2B1	#605588
		Generalized neuropathy phenotype
Multisystem	MADA	Mandibuloacral dysplasia	#248370
	RD	Restrictive dermopathy	#176670
		Generalized metabolic syndrome phenotype
		Slovenian type heart-hand syndrome
Premature aging	HGPS	Hutchinson–Gilford progeria syndrome	#176670
	WRN-like	Atypical Werner syndrome	#277700
	LIRLLC/LDHCP	Generalized lipoatrophy, insulin-resistant diabetes, disseminated leuko-melanodermic papules	#608056
		Liver steatosis and cardiomyopathy

^aList of human genetic diseases and disorders caused by mutations in the LMNA gene, classified by type of tissue affected (see also [151])

ISSN: 1474-760X