메뉴 건너뛰기




Volumn 24, Issue 24, 2003, Pages 2227-2236

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations

Author keywords

Arrhythmia; Cardiac disease; Cardiomyopathy; Lamin A C; Muscular dystrophy; Sudden death

Indexed keywords

LAMIN A; LAMIN C;

EID: 10744225746     PISSN: 0195668X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ehj.2003.09.020     Document Type: Article
Times cited : (118)

References (33)
  • 2
  • 3
    • 0024419522 scopus 로고
    • Emery-Dreifuss syndrome
    • Emery AE. Emery-Dreifuss syndrome. J Med Genet 1989;26:637-41.
    • (1989) J Med Genet , vol.26 , pp. 637-641
    • Emery, A.E.1
  • 4
    • 0027257461 scopus 로고
    • Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
    • Lin F, Worman HJ. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem 1993;268:16321-6.
    • (1993) J Biol Chem , vol.268 , pp. 16321-16326
    • Lin, F.1    Worman, H.J.2
  • 5
    • 0016775532 scopus 로고
    • Cardiac features of an unusual X-linked humeroperoneal neuromuscolar disease
    • Waters DD, Nutter DO, Hopkins LC et al. Cardiac features of an unusual X-linked humeroperoneal neuromuscolar disease. N Engl J Med 1975;293:1017-22.
    • (1975) N Engl J Med , vol.293 , pp. 1017-1022
    • Waters, D.D.1    Nutter, D.O.2    Hopkins, L.C.3
  • 6
    • 0018713543 scopus 로고
    • Atrioventricular block and supraventricular arrhythmias with X linked muscular dystrophy
    • Hassan Z, Fastabend CP, Mohanty PK et al. Atrioventricular block and supraventricular arrhythmias with X linked muscular dystrophy. Circulation 1979;60:1365-9.
    • (1979) Circulation , vol.60 , pp. 1365-1369
    • Hassan, Z.1    Fastabend, C.P.2    Mohanty, P.K.3
  • 7
    • 0019413028 scopus 로고
    • Emery-Dreifuss humoperoneal muscular dystrophy: An X-linked myopathy with unusual contractures and bradycardia
    • Hopkins LC, Jackson JA, Elsas LJ. Emery-Dreifuss humoperoneal muscular dystrophy: an X-linked myopathy with unusual contractures and bradycardia. Ann Neural 1981;10:230-7.
    • (1981) Ann Neural , vol.10 , pp. 230-237
    • Hopkins, L.C.1    Jackson, J.A.2    Elsas, L.J.3
  • 8
    • 0033927867 scopus 로고    scopus 로고
    • Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
    • Raffaele di Barletta M, Ricci E, Galluzzi G et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2000;66:1407-12.
    • (2000) Am J Hum Genet , vol.66 , pp. 1407-1412
    • Raffaele Di Barletta, M.1    Ricci, E.2    Galluzzi, G.3
  • 9
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery Dreifuss muscular dystrophy
    • Bonne G, Raffaele di Barletta M, Varnous S et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery Dreifuss muscular dystrophy. Nat Gen 1999;21:285-8.
    • (1999) Nat Gen , vol.21 , pp. 285-288
    • Bonne, G.1    Raffaele Di Barletta, M.2    Varnous, S.3
  • 10
    • 0037183491 scopus 로고    scopus 로고
    • Lamin A/C mutations and lipodystrophy, cardiac abnormalities and muscular dystrophy
    • Van der Kooi AJ, Bonne G, Eymard B et al. Lamin A/C mutations and lipodystrophy, cardiac abnormalities and muscular dystrophy. Neurology 2002;59:620-3.
    • (2002) Neurology , vol.59 , pp. 620-623
    • Van Der Kooi, A.J.1    Bonne, G.2    Eymard, B.3
  • 11
    • 0033865686 scopus 로고    scopus 로고
    • Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
    • Bonne G, Mercuri E, Muchir A et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neural 2000;48(2):170-80.
    • (2000) Ann Neural , vol.48 , Issue.2 , pp. 170-180
    • Bonne, G.1    Mercuri, E.2    Muchir, A.3
  • 12
    • 0035451481 scopus 로고    scopus 로고
    • Novel and recurrent mutations in Lamin A/C in patients with Emery-Dreifuss muscular dystrophy
    • Brown CA, Lanning RW, McKinney KQ et al. Novel and recurrent mutations in Lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Am J Med Gen 2001;102:359-67.
    • (2001) Am J Med Gen , vol.102 , pp. 359-367
    • Brown, C.A.1    Lanning, R.W.2    McKinney, K.Q.3
  • 13
    • 0033518282 scopus 로고    scopus 로고
    • Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction system disease
    • 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;341:1715-24.
    • (1999) N Engl J Med , vol.341 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3
  • 14
    • 18344380431 scopus 로고    scopus 로고
    • Autosomal dominant dilated cardiomyopathy with atrioventricular block: A lamin A/C defect-related disease
    • Arbustini E, Pilotto A, Repetto A et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol 2002;39:981-90.
    • (2002) J Am Coll Cardiol , vol.39 , pp. 981-990
    • Arbustini, E.1    Pilotto, A.2    Repetto, A.3
  • 15
    • 0036911038 scopus 로고    scopus 로고
    • A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation
    • Hersberger RE, Hanson EL, Jakobs P et al. A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation. Am Heart J 2002;144:1081-6.
    • (2002) Am Heart J , vol.144 , pp. 1081-1086
    • Hersberger, R.E.1    Hanson, E.L.2    Jakobs, P.3
  • 16
    • 0033636387 scopus 로고    scopus 로고
    • High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation
    • Becane 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. PACE 2000;23(Pt 1):1661-6.
    • (2000) PACE , vol.23 , Issue.PART 1 , pp. 1661-1666
    • Becane, H.M.1    Bonne, G.2    Varnous, S.3
  • 17
    • 0034620567 scopus 로고    scopus 로고
    • Lamin A/C mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
    • Brodsky GL, Muntoni F, Miocic S et al. Lamin A/C mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 2000;101:473-6.
    • (2000) Circulation , vol.101 , pp. 473-476
    • Brodsky, G.L.1    Muntoni, F.2    Miocic, S.3
  • 18
    • 0037420074 scopus 로고    scopus 로고
    • Natural history of dilated cardiomyopathy due to lamin A/C gene mutations
    • Taylor MRG, Fain P, Sinagra G et al. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 2003;41:771-80.
    • (2003) J Am Coll Cardiol , vol.41 , pp. 771-780
    • Taylor, M.R.G.1    Fain, P.2    Sinagra, G.3
  • 19
    • 0032907629 scopus 로고    scopus 로고
    • 60th ENMC International Workshop: Non X-linked Emery-Dreifuss Muscular Dystrophy, 5-7 June 1998
    • Wehnert M, Muntoni F. 60th ENMC International Workshop: Non X-linked Emery-Dreifuss Muscular Dystrophy, 5-7 June 1998. Neuromuscul Disord 1999;9:115-20.
    • (1999) Neuromuscul Disord , vol.9 , pp. 115-120
    • Wehnert, M.1    Muntoni, F.2
  • 20
    • 0028865862 scopus 로고
    • Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease
    • Bione S, Small K, Aksmanovic VM et al. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet 1995;4(10):1859-63.
    • (1995) Hum Mol Genet , vol.4 , Issue.10 , pp. 1859-1863
    • Bione, S.1    Small, K.2    Aksmanovic, V.M.3
  • 21
    • 0036893901 scopus 로고    scopus 로고
    • Frequent low penetrance mutations in the lamin A/C gene, causing Emery Dreifuss muscular dystrophy
    • Vytopil M, Ricci E, Dello Russo A et al. Frequent low penetrance mutations in the lamin A/C gene, causing Emery Dreifuss muscular dystrophy. Neuromuscul Disord 2002;12(10):958-63.
    • (2002) Neuromuscul Disord , vol.12 , Issue.10 , pp. 958-963
    • Vytopil, M.1    Ricci, E.2    Dello Russo, A.3
  • 22
    • 0029099528 scopus 로고
    • Guidelines for Clinical Intracardiac Electrophysiological and Catheter Ablation Procedures
    • ACC/AHA. Guidelines for Clinical Intracardiac Electrophysiological and Catheter Ablation Procedures. J Cardiovasc Electrophysiol 1995;6(8):652-79.
    • (1995) J Cardiovasc Electrophysiol , vol.6 , Issue.8 , pp. 652-679
  • 23
    • 85044492611 scopus 로고    scopus 로고
    • Guidelines for coronary angiography
    • ACC/AHA. Guidelines for coronary angiography. Circulation 1999;99(17):2345-57.
    • (1999) Circulation , vol.99 , Issue.17 , pp. 2345-2357
  • 24
    • 19044368790 scopus 로고    scopus 로고
    • Recommendations for a standardized report for adult transthoracic echocardiography: A report from the American Society of Echocardiography's Nomenclature and Standards Committee and Task Force for a Standardized Echocardiography Report
    • Gardin JM, Adams DB, Douglas PS et at. Recommendations for a standardized report for adult transthoracic echocardiography: a report from the American Society of Echocardiography's Nomenclature and Standards Committee and Task Force for a Standardized Echocardiography Report. J Am Soc Echocordiogr 2002;15(3):275-90.
    • (2002) J Am Soc Echocordiogr , vol.15 , Issue.3 , pp. 275-290
    • Gardin, J.M.1    Adams, D.B.2    Douglas, P.S.3
  • 25
    • 0030063525 scopus 로고    scopus 로고
    • Persistent atrial standstill documented over 22-year period
    • Bensaid J. Persistent atrial standstill documented over 22-year period. Am Heart J 1996;131(2):404-7.
    • (1996) Am Heart J , vol.131 , Issue.2 , pp. 404-407
    • Bensaid, J.1
  • 26
    • 0031663574 scopus 로고    scopus 로고
    • Familial atrial standstill with co-existent atrial flutter
    • Balaji S, Till J, Shinebourne EA. Familial atrial standstill with co-existent atrial flutter. Pocing Clin Electrophysiol 1998;21(9):1841-2.
    • (1998) Pocing Clin Electrophysiol , vol.21 , Issue.9 , pp. 1841-1842
    • Balaji, S.1    Till, J.2    Shinebourne, E.A.3
  • 27
    • 0025874597 scopus 로고
    • Persistent atrial standstill. Clinical, electrophysiological, and morphological study
    • Talwar KK, Dev V, Chopra P et al. Persistent atrial standstill. Clinical, electrophysiological, and morphological study. Pocing Clin Electrophysiol 1991;14(8):1274-80.
    • (1991) Pocing Clin Electrophysiol , vol.14 , Issue.8 , pp. 1274-1280
    • Talwar, K.K.1    Dev, V.2    Chopra, P.3
  • 28
    • 0032053695 scopus 로고    scopus 로고
    • Guidelines for implantation of cardiac pacemakers and antiarrhythmia devices
    • ACC/AHA. Guidelines for implantation of cardiac pacemakers and antiarrhythmia devices. J Am Coll Cardiol 1998;31(5):1175-209.
    • (1998) J Am Coll Cardiol , vol.31 , Issue.5 , pp. 1175-1209
  • 29
    • 0345901552 scopus 로고    scopus 로고
    • Cardiac sudden death in laminopathies (Abstr)
    • Bonne G, Ben Yaou R, Becane H-M et al. Cardiac sudden death in laminopathies (Abstr). Neuromusc Disorders 2002;12(7-8):722.
    • (2002) Neuromusc Disorders , vol.12 , Issue.7-8 , pp. 722
    • Bonne, G.1    Ben Yaou, R.2    Becane, H.-M.3
  • 30
    • 2542489450 scopus 로고    scopus 로고
    • Sudden death can not be prevented by pacemaker therapy in patients with lamin A/C mutations
    • van Berlo JH, de Voogt WG, van der Kooi AJ et al. Sudden death can not be prevented by pacemaker therapy in patients with lamin A/C mutations (Abstr). Circulation 2002;106(19):3182.
    • (2002) Circulation , vol.106 , Issue.19 , pp. 3182
    • Van Berlo, J.H.1    De Voogt, W.G.2    Van Der Kooi, A.J.3
  • 31
    • 0035153087 scopus 로고    scopus 로고
    • Lamins in disease: Why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes?
    • Hutchinson CJ, Alvarez-Reyes M, Vaughan OA. Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes? J Cell Sci 2001;114:9-19.
    • (2001) J Cell Sci , vol.114 , pp. 9-19
    • Hutchinson, C.J.1    Alvarez-Reyes, M.2    Vaughan, O.A.3
  • 32
    • 0034820958 scopus 로고    scopus 로고
    • Novel lamin A/C gene mutation in two families with dilated cardiomyopathy and conduction system disease
    • Jakobs PM, Hanson EL, Crispell KA et al. Novel lamin A/C gene mutation in two families with dilated cardiomyopathy and conduction system disease. J Card Fail 2001;7:249-56.
    • (2001) J Card Fail , vol.7 , pp. 249-256
    • Jakobs, P.M.1    Hanson, E.L.2    Crispell, K.A.3
  • 33
    • 0035256432 scopus 로고    scopus 로고
    • An R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy
    • Genshel J, Bochow B, Kuepferling S et al. An R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy. Hum Mut 2001;17:154.
    • (2001) Hum Mut , vol.17 , pp. 154
    • Genshel, J.1    Bochow, B.2    Kuepferling, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.