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Liu, D. LMNA Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4430 (accessed on 25 September 2026).
Liu D. LMNA Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4430. Accessed September 25, 2026.
Liu, Dean. "LMNA Gene" Encyclopedia, https://encyclopedia.pub/entry/4430 (accessed September 25, 2026).
Liu, D. (2020, December 23). LMNA Gene. In Encyclopedia. https://encyclopedia.pub/entry/4430
Liu, Dean. "LMNA Gene." Encyclopedia. Web. 23 December, 2020.
LMNA Gene
Edit

Lamin A/C

genes

References

  1. Bidault G, Vatier C, Capeau J, Vigouroux C, Béréziat V. LMNA-linkedlipodystrophies: from altered fat distribution to cellular alterations. BiochemSoc Trans. 2011 Dec;39(6):1752-7. doi: 10.1042/BST20110675. Review.
  2. Bonne G, Quijano-Roy S. Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. Handb Clin Neurol. 2013;113:1367-76. doi:10.1016/B978-0-444-59565-2.00007-1. Review.
  3. Carboni N, Mateddu A, Marrosu G, Cocco E, Marrosu MG. Genetic and clinicalcharacteristics of skeletal and cardiac muscle in patients with lamin A/C genemutations. Muscle Nerve. 2013 Aug;48(2):161-70. doi: 10.1002/mus.23827.
  4. Carboni N, Politano L, Floris M, Mateddu A, Solla E, Olla S, Maggi L,Antonietta Maioli M, Piras R, Cocco E, Marrosu G, Giovanna Marrosu M. Overlappingsyndromes in laminopathies: a meta-analysis of the reported literature. ActaMyol. 2013 May;32(1):7-17. Review.
  5. De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I,Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Lévy N. Lamin a truncation inHutchinson-Gilford progeria. Science. 2003 Jun 27;300(5628):2055.
  6. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR,Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Recurrent de novo point mutations in lamin A causeHutchinson-Gilford progeria syndrome. Nature. 2003 May 15;423(6937):293-8.
  7. Garg A, Subramanyam L, Agarwal AK, Simha V, Levine B, D'Apice MR, Novelli G,Crow Y. Atypical progeroid syndrome due to heterozygous missense LMNA mutations. J Clin Endocrinol Metab. 2009 Dec;94(12):4971-83. doi: 10.1210/jc.2009-0472.
  8. Guénantin AC, Briand N, Bidault G, Afonso P, Béréziat V, Vatier C, Lascols O, Caron-Debarle M, Capeau J, Vigouroux C. Nuclear envelope-related lipodystrophies.Semin Cell Dev Biol. 2014 May;29:148-57. doi: 10.1016/j.semcdb.2013.12.015.
  9. Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, deVisser M, Schwartz K. Identification of mutations in the gene encoding lamins A/Cin autosomal dominant limb girdle muscular dystrophy with atrioventricularconduction disturbances (LGMD1B). Hum Mol Genet. 2000 May 22;9(9):1453-9.
  10. Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, GenevièveD, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N.Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet. 2004 Oct 15;13(20):2493-503.
  11. Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C,Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G,Dallapiccola B, Merlini L, Bonne G. Mandibuloacral dysplasia is caused by amutation in LMNA-encoding lamin A/C. Am J Hum Genet. 2002 Aug;71(2):426-31.
  12. Petillo R, D'Ambrosio P, Torella A, Taglia A, Picillo E, Testori A, Ergoli M, Nigro G, Piluso G, Nigro V, Politano L. Novel mutations in LMNA A/C gene andassociated phenotypes. Acta Myol. 2015 Dec;34(2-3):116-9.
  13. Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF,Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, BaroisA, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F,Guicheney P, Richard P, Bonne G, Estournet B. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol. 2008 Aug;64(2):177-86. doi:10.1002/ana.21417.
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