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2015 | 4 | 327-329

Article title

Cardiac involvement in laminopathies – short invited review

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EN

Abstracts

References

  • Wehnert MS, Bonne G. The nuclear muscular dystrophies. Semin Pediatr Neurol 2002; 9: 100–107.
  • Emery AE, Dreifuss FE. Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatry 1966; 29(4):338–342.
  • Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery--Dreifuss muscular dystrophy. Nat Genet 1999; 21(3): 285–288.
  • Muchir A, Bonne G, van der Kooi AJ, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000; 9(9):1453–1459.
  • Lattanzi G, Benedetti S, Bertini E, et al. Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies. Acta Myol 2011; 30(2): 138–143.
  • Davidson PM, Lammerding J. Broken nuclei-lamins, nuclear mechanics, and disease. Trends Cell Biol 2014; 24: 247–256.
  • Benedetti S, Bernasconi P, Bertini E, et al. The empowerment of translational research: lessons from laminopathies. Orphanet J Rare Dis 2012; 7: 37.
  • Politano L, Carboni N, Madej-Pilarczyk A, et al. Advances in basic and clinical research in laminopathies. Acta Myol 2013; 32(1): 18–22. Review.
  • Mercuri E, Poppe M, Quinlivan R, et al. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch Neurol 2004;61: 690–694.
  • Quijano-Roy S, Mbieleu B, Bönnemann CG, et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 2008; 64: 177–186.
  • Maggi L, D’Amico A, Pini A, et al. LMNA-associated myopathies: the Italian experience in a large cohort of patients. Neurology 2014; 83: 1634–1644.
  • Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999; 341: 1715–1724.
  • Vytopil M, Benedetti S, Ricci E, et al. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet 2003; 40: e132.
  • van Berlo JH, de Voogt WG, van der Kooi AJ, et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations:do lamin A/C mutations portend a high risk of sudden death? J Mol Med (Berl) 2005; 83: 79–83.
  • . Boriani G, Gallina M, Merlini L, et al. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke 2003; 34: 901–90
  • Bécane HM, Bonne G, Varnous S, et al. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol 2000; 23(11 Pt. 1): 1661–1666.
  • Nigro G, Russo V, Rago A, et al. Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. Kardiol Pol 2012; 70: 1154–1159.
  • Russo V, Rago A, Politano L, et al. Increased dispersion of ventricular repolarization in Emery Dreifuss muscular dystrophy patients. Med Sci Monit 2012; 18: CR643–CR647.
  • Pasotti M, Klersy C, Pilotto A, et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol 2008; 52: 1250–1260.
  • van Rijsingen IA, Nannenberg EA, Arbustini E, et al. Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. Eur J Heart Fail 2013; 15: 376–384.
  • Cabanelas N, Martins VP. Laminopathies: a Pandora’s box of heart failure, bradyarrhythmias and sudden death. Rev Port Cardiol 2015 Feb; 34(2): 139.e1-5. doi: 10.1016/j.repc.2014.08.007. Epub 2015 Feb 3.
  • Menezes MP, Waddell LB, Evesson FJ, et al. Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology 2012; 78: 1258–1263.

Document Type

Publication order reference

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bwmeta1.element.desklight-b94bc76c-2222-4621-bf02-2045c2accd0d
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