LMNA

Pathology

 germline LMNA mutations in:

• some Emery-Dreifuss muscular dystrophy (MIM.181350)
• some limb-girdle muscular dystrophy 1B (LGMD1B) (MIM.159001)
• some forms of autosomal recessive axonal Charcot-Marie-Tooth disease 2B1 (CMT2B1) (MIM.605588)
• mandibuloacral dysplasia (MAD) (MIM.248370) (12075506)
• dilated cardiomyopathy with cardiac conduction system defect (CMD1A) (MIM.115200)
• partial lipodystrophy type 2 (Dunnigan-type familial partial lipodystrophy) (FPLD) (MIM.151660)
• Hutchinson-Gilford progeria syndrome or progeria (HGPS) (MIM.176670)
• LDHCP syndrome (MIM.608056)
• progeroid syndrome or atypical Werner syndrome (MIM.277700)
• early-onset myopathy and progeroid features (MIM.176670)

 LMNA variant in obesity-related traits

References

 Broers JL, Hutchison CJ, Ramaekers FC. Laminopathies. J Pathol. 2004 Nov;204(4):478-88. PMID: 15495262

 Worman HJ, Courvalin JC. The nuclear lamina and inherited disease. Trends Cell Biol. 2002 Dec ;12(12):591-8. PMID : 12495848

 Burke B, Stewart CL. Life at the edge : the nuclear envelope and human disease. Nat Rev Mol Cell Biol. 2002 Aug ;3(8):575-85. PMID : 12154369

 Mounkes LC, Stewart CL. Aging and nuclear organization: lamins and progeria. Curr Opin Cell Biol. 2004 Jun;16(3):322-7. PMID: 15145358

 Novelli G, D’Apice MR. The strange case of the "lumper" lamin A/C gene and human premature ageing. Trends Mol Med. 2003 Sep;9(9):370-5. PMID: 13129702

 Worman HJ, Courvalin JC. The nuclear lamina and inherited disease. Trends Cell Biol. 2002 Dec ;12(12):591-8. PMID : 12495848