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. 2015 Aug 25;16(1):174. doi: 10.1186/s13059-015-0747-5

Table 2.

Classification of the laminopathiesa

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])