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Volumn 25, Issue 3, 2000, Pages 156-160

Genetics of idiopathic dilated cardiomyopathy

Author keywords

Actin; Desmin; Dystrophin; Familial dilated cardiomyopathy; Lamin A C; Mitochondrial DNA; X linked DCM

Indexed keywords

ACTIN; CREATINE KINASE; DESMIN; DYSTROPHIN; LAMIN A; LAMIN C; MITOCHONDRIAL DNA;

EID: 0033916894     PISSN: 03409937     EISSN: None     Source Type: Journal    
DOI: 10.1007/s000590050001     Document Type: Article
Times cited : (20)

References (27)
  • 1
    • 0019423856 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290: 457-65.
    • (1981) Nature , vol.290 , pp. 457-465
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 2
    • 0025934591 scopus 로고
    • H and L ferritins in myocardium of iron overload patients. An immunohistochemical study
    • Arbustini E, Grasso M, Pucci A, et al. H and L ferritins in myocardium of iron overload patients. An immunohistochemical study. Am J Cardiol 1991;68:1233-6.
    • (1991) Am J Cardiol , vol.68 , pp. 1233-1236
    • Arbustini, E.1    Grasso, M.2    Pucci, A.3
  • 3
    • 18244413442 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy
    • Arbustini E, Diegoli M, Fasani R, et al. Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. Am J Pathol 1998;153:1510-6.
    • (1998) Am J Pathol , vol.153 , pp. 1510-1516
    • Arbustini, E.1    Diegoli, M.2    Fasani, R.3
  • 4
    • 15644384508 scopus 로고    scopus 로고
    • Coexistence of mitochondrial DNA and beta-myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure
    • Arbustini E, Fasani R, Morbini P, et al. Coexistence of mitochondrial DNA and beta-myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. Heart 1998; 80:548-58.
    • (1998) Heart , vol.80 , pp. 548-558
    • Arbustini, E.1    Fasani, R.2    Morbini, P.3
  • 5
    • 0032033780 scopus 로고    scopus 로고
    • Restrictive cardiomyopathy, atrio-ventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits
    • Arbustini E, Morbini P, Grasso M, et al. Restrictive cardiomyopathy, atrio-ventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits. J Am Coll Cardiol 1998;31:645-53.
    • (1998) J Am Coll Cardiol , vol.31 , pp. 645-653
    • Arbustini, E.1    Morbini, P.2    Grasso, M.3
  • 6
    • 0034120286 scopus 로고    scopus 로고
    • Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy
    • in press
    • Arbustini E, Diegoli M, Morbini P, et al. Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy. J Am Col Cardiol 2000, in press.
    • (2000) J Am Col Cardiol
    • Arbustini, E.1    Diegoli, M.2    Morbini, P.3
  • 7
    • 0027985787 scopus 로고
    • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    • Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994;8:323-7.
    • (1994) Nat Genet , vol.8 , pp. 323-327
    • Bione, S.1    Maestrini, E.2    Rivella, S.3
  • 8
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    • 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;21:285-8.
    • (1999) Nat Genet , vol.21 , pp. 285-288
    • Bonne, G.1    Di Barletta, M.R.2    Varnous, S.3
  • 9
    • 0034620567 scopus 로고    scopus 로고
    • Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
    • Brodsky GL, Muntoni F, Miocic S, et al. Lamin A/C gene 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
  • 10
    • 0343640698 scopus 로고    scopus 로고
    • Heart-specific localization of emerin: New insights into Emery-Dreifuss muscular dystrophy
    • Cartegni L, di Barletta MR, Barresi R, et al. Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. Hum Mol Genet 1997;6:2257-64.
    • (1997) Hum Mol Genet , vol.6 , pp. 2257-2264
    • Cartegni, L.1    Di Barletta, M.R.2    Barresi, R.3
  • 11
    • 16944366521 scopus 로고    scopus 로고
    • The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
    • D'Adamo P, Fassone L, Gedeon A. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 1997;61:862-7.
    • (1997) Am J Hum Genet , vol.61 , pp. 862-867
    • D'Adamo, P.1    Fassone, L.2    Gedeon, A.3
  • 12
    • 0034673647 scopus 로고    scopus 로고
    • Desmin myopathy with cardiomyopathy caused by mutations in the desmin gene
    • Dalakas MC, Park KY, Semino-Mora C, et al. Desmin myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 2000;342:770-80.
    • (2000) N Engl J Med , vol.342 , pp. 770-780
    • Dalakas, M.C.1    Park, K.Y.2    Semino-Mora, C.3
  • 13
  • 14
    • 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, etal. 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
  • 15
    • 17344373157 scopus 로고    scopus 로고
    • Missense mutations in desmin associated with familial cardiac and skeletal myopathy
    • Goldfarb LG, Park KY, Cervenakova L, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998;19:402-3.
    • (1998) Nat Genet , vol.19 , pp. 402-403
    • Goldfarb, L.G.1    Park, K.Y.2    Cervenakova, L.3
  • 16
    • 0031011211 scopus 로고    scopus 로고
    • A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator
    • Graham BH, Waymire KG, Cottrell B, et al. A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat Genet 1997;16:226-34.
    • (1997) Nat Genet , vol.16 , pp. 226-234
    • Graham, B.H.1    Waymire, K.G.2    Cottrell, B.3
  • 17
    • 0033520037 scopus 로고    scopus 로고
    • Desmin mutation responsible for idiopathic dilated cardiomyopathy
    • Li D, Tapscoft T, Gonzalez O, et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 1999;100: 461-4.
    • (1999) Circulation , vol.100 , pp. 461-464
    • Li, D.1    Tapscoft, T.2    Gonzalez, O.3
  • 18
    • 18744433901 scopus 로고    scopus 로고
    • Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
    • Mogensen J, Klausen IC, Pedersen AK, et al. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest 1999;103:R39-43.
    • (1999) J Clin Invest , vol.103
    • Mogensen, J.1    Klausen, I.C.2    Pedersen, A.K.3
  • 19
    • 0027265702 scopus 로고
    • Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy
    • Muntoni F, Cau M, Ganau A, et al. Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 1993;329:921-3.
    • (1993) N Engl J Med , vol.329 , pp. 921-923
    • Muntoni, F.1    Cau, M.2    Ganau, A.3
  • 20
    • 0028132560 scopus 로고
    • Mutation of dystrophin gene and cardiomyopathy
    • Nigro G, Politano L, Nigro V, et al. Mutation of dystrophin gene and cardiomyopathy. Neuromusc Disord 1994;4:371-9.
    • (1994) Neuromusc Disord , vol.4 , pp. 371-379
    • Nigro, G.1    Politano, L.2    Nigro, V.3
  • 21
    • 17644430698 scopus 로고    scopus 로고
    • Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers
    • Sabatelli P, Squarzoni S, Petrini S, et al. Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. Neuromusc Disord 1998;8: 67-71.
    • (1998) Neuromusc Disord , vol.8 , pp. 67-71
    • Sabatelli, P.1    Squarzoni, S.2    Petrini, S.3
  • 22
    • 0033366515 scopus 로고    scopus 로고
    • Maternally inherited cardiomyopathy: An atypical presentation of the mtDNA 12S rRNA gene A1555G mutation
    • Santorelli FM, Tanji K, Manta P, et al. Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am J Hum Genet 1999;64:295-300.
    • (1999) Am J Hum Genet , vol.64 , pp. 295-300
    • Santorelli, F.M.1    Tanji, K.2    Manta, P.3
  • 23
    • 0029565008 scopus 로고
    • Genetic heterogeneity in familial dilated cardiomyopathy
    • Schultz KR, Gajarski RJ, Pignatelli R, et al. Genetic heterogeneity in familial dilated cardiomyopathy. Biochem Mol Med 1995; 56:87-93.
    • (1995) Biochem Mol Med , vol.56 , pp. 87-93
    • Schultz, K.R.1    Gajarski, R.J.2    Pignatelli, R.3
  • 24
    • 0027193330 scopus 로고
    • X-linked dilated cardiomyopathy: Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Wp21 locus
    • Towbin, JA, Ejtmancik JF, Brink P, et al. X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Wp21 locus. Circulation 1993;87:1854-65.
    • (1993) Circulation , vol.87 , pp. 1854-1865
    • Towbin, J.A.1    Ejtmancik, J.F.2    Brink, P.3
  • 25
    • 0029814021 scopus 로고    scopus 로고
    • Human desmin gene: CDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy
    • Vicart P, Dupret JM, Hazan J, et al. Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. Hum Genet 1996;98:422-9.
    • (1996) Hum Genet , vol.98 , pp. 422-429
    • Vicart, P.1    Dupret, J.M.2    Hazan, J.3
  • 26
    • 17344361902 scopus 로고    scopus 로고
    • A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
    • Vicart P, Caron A, Guicheney P, et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998;20:92-5.
    • (1998) Nat Genet , vol.20 , pp. 92-95
    • Vicart, P.1    Caron, A.2    Guicheney, P.3
  • 27
    • 0024404741 scopus 로고
    • Report of the Committee on human mitochondrial DNA
    • Wallace DC. Report of the Committee on human mitochondrial DNA. Cytogenet Cell Genet 1989;51:612-21.
    • (1989) Cytogenet Cell Genet , vol.51 , pp. 612-621
    • Wallace, D.C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.