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Table 2 Classification of the laminopathiesa

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

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