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Volumn 35, Issue 3, 1998, Pages 183-188

Counselling issues in familial hypertrophic cardiomyopathy

Author keywords

Counselling; Familial hypertrophic cardiomyopathy; Penetrance

Indexed keywords

MUTANT PROTEIN; MYOSIN; MYOSIN HEAVY CHAIN; PROTEIN C;

EID: 0031920947     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.3.183     Document Type: Article
Times cited : (17)

References (21)
  • 1
    • 0021129260 scopus 로고
    • Hypertrophie cardiomyopathy: An important cause of sudden death
    • McKenna WJ, Deanfield JE. Hypertrophie cardiomyopathy: an important cause of sudden death. Arch Dis Child 1984;59:971-5.
    • (1984) Arch Dis Child , vol.59 , pp. 971-975
    • McKenna, W.J.1    Deanfield, J.E.2
  • 2
    • 0030057106 scopus 로고    scopus 로고
    • Sudden death in young competitive athletes: Clinical, demographic, and pathological profiles
    • Maron BJ, Shirani J, Poliac LC Mathenge R, Roberts WC, Mueller FO. Sudden death in young competitive athletes: clinical, demographic, and pathological profiles. JAMA 1996;276:199-204.
    • (1996) JAMA , vol.276 , pp. 199-204
    • Maron, B.J.1    Shirani, J.2    Poliac, L.C.3    Mathenge, R.4    Roberts, W.C.5    Mueller, F.O.6
  • 5
    • 0023768193 scopus 로고
    • Equivocal and borderline myocardial hypertrophy in relatives of patients with hypertrophic cardiomyopathy: Possible implications in genetics of the disease
    • Autore C, Fragola PV, Picelli A, et al. Equivocal and borderline myocardial hypertrophy in relatives of patients with hypertrophic cardiomyopathy: possible implications in genetics of the disease. Cardiology 1988;75:348-56.
    • (1988) Cardiology , vol.75 , pp. 348-356
    • Autore, C.1    Fragola, P.V.2    Picelli, A.3
  • 6
    • 0028902929 scopus 로고
    • Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy
    • Watkins H, McKenna VPJ, Thierfelder L, et al. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995;332: 1058-64.
    • (1995) N Engl J Med , vol.332 , pp. 1058-1064
    • Watkins, H.1    McKenna, V.P.J.2    Thierfelder, L.3
  • 7
    • 0027954269 scopus 로고
    • Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy
    • Anan R, Greve G, Thierfelder L, et al. Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest 1994;93:280-5.
    • (1994) J Clin Invest , vol.93 , pp. 280-285
    • Anan, R.1    Greve, G.2    Thierfelder, L.3
  • 8
    • 17344372574 scopus 로고    scopus 로고
    • Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene
    • Yu B, French JA, Carrier L, et al. Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene. J Med Genet 1998;35:205-10.
    • (1998) J Med Genet , vol.35 , pp. 205-210
    • Yu, B.1    French, J.A.2    Carrier, L.3
  • 9
    • 15844400653 scopus 로고    scopus 로고
    • Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
    • Poetter K, Jiang H, Hassanzadeh S, et al. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet 1996;13:63-9.
    • (1996) Nat Genet , vol.13 , pp. 63-69
    • Poetter, K.1    Jiang, H.2    Hassanzadeh, S.3
  • 10
    • 0030765610 scopus 로고    scopus 로고
    • Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
    • Kimura A, Harada H, Park JE, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997;16:379-82.
    • (1997) Nat Genet , vol.16 , pp. 379-382
    • Kimura, A.1    Harada, H.2    Park, J.E.3
  • 11
    • 0029143611 scopus 로고
    • Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3
    • MacRae CA, Ghaisas N, Kass S, et al. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. J Clin Invest 1995;96: 1216-20.
    • (1995) J Clin Invest , vol.96 , pp. 1216-1220
    • MacRae, C.A.1    Ghaisas, N.2    Kass, S.3
  • 13
    • 12644317811 scopus 로고    scopus 로고
    • DNA testing in familial hypertrophic cardiomyopathy - Clinical and laboratory implications
    • Smart RV, Yu B, Le H, et al. DNA testing in familial hypertrophic cardiomyopathy - clinical and laboratory implications. Clin Genet 1996;50:169-75.
    • (1996) Clin Genet , vol.50 , pp. 169-175
    • Smart, R.V.1    Yu, B.2    Le, H.3
  • 14
    • 0031049263 scopus 로고    scopus 로고
    • Experience from clinical genetics in hypertrophic cardiomyopathy: Proposal for new diagnostic criteria in adult members of affected families
    • McKenna WJ, Spirito P, Desnos M, Dubourg O, Komajda M. Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart 1997;77:130-2.
    • (1997) Heart , vol.77 , pp. 130-132
    • McKenna, W.J.1    Spirito, P.2    Desnos, M.3    Dubourg, O.4    Komajda, M.5
  • 15
    • 0026573969 scopus 로고
    • Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
    • Watkins H, Rosenzweig A, Hwang DS, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J A Med 1992;326:1108-14.
    • (1992) N Engl J A Med , vol.326 , pp. 1108-1114
    • Watkins, H.1    Rosenzweig, A.2    Hwang, D.S.3
  • 16
    • 0028140230 scopus 로고
    • Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations
    • Fananapazir L, Epstein ND. Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations. Circulation 1994; 89:22-32.
    • (1994) Circulation , vol.89 , pp. 22-32
    • Fananapazir, L.1    Epstein, N.D.2
  • 17
    • 0025345602 scopus 로고
    • Sudden death in hypertrophic cardiomyopathy with normal left ventricular mass
    • Maron BJ, Kragel AH, Roberts WC. Sudden death in hypertrophic cardiomyopathy with normal left ventricular mass. Br Heart J 1990;63:308-10.
    • (1990) Br Heart J , vol.63 , pp. 308-310
    • Maron, B.J.1    Kragel, A.H.2    Roberts, W.C.3
  • 18
    • 0029012459 scopus 로고
    • Hypertrophic cardiomyopathy pathology and pathogenesis
    • Davis MJ, McKenna WJ. Hypertrophic cardiomyopathy pathology and pathogenesis. Histopathology 1995;26:493-500.
    • (1995) Histopathology , vol.26 , pp. 493-500
    • Davis, M.J.1    McKenna, W.J.2
  • 19
    • 0025301920 scopus 로고
    • Should we test children for "adult" genetic diseases?
    • Harper PS, Clarke A. Should we test children for "adult" genetic diseases? Lancet 1990;335:1205-6.
    • (1990) Lancet , vol.335 , pp. 1205-1206
    • Harper, P.S.1    Clarke, A.2
  • 20
    • 0027945216 scopus 로고
    • The genetic testing of children
    • Clarke A. The genetic testing of children. J Med Genet 1994;31:785-97.
    • (1994) J Med Genet , vol.31 , pp. 785-797
    • Clarke, A.1
  • 21
    • 0028901250 scopus 로고
    • Genetic testing for familial hypertrophic cardiomyopathy in newborn infants
    • Ryan MP, French J, al-Mahdawi S, et al. Genetic testing for familial hypertrophic cardiomyopathy in newborn infants. BMJ 1995;310:856-9.
    • (1995) BMJ , vol.310 , pp. 856-859
    • Ryan, M.P.1    French, J.2    Al-Mahdawi, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.