LMNA
Member of the lamins ptotein family.
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#