메뉴 건너뛰기




Volumn 17, Issue 6, 2007, Pages 490-493

Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation

Author keywords

Cardiomyopathy; Distal myopathy; MYH7; Val606Met

Indexed keywords

CREATINE KINASE; METHIONINE; MYOSIN HEAVY CHAIN; VALINE;

EID: 34249084665     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.02.007     Document Type: Article
Times cited : (30)

References (13)
  • 1
    • 0035936792 scopus 로고    scopus 로고
    • The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms
    • Seidman J.G., and Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 104 4 (2001) 557-567
    • (2001) Cell , vol.104 , Issue.4 , pp. 557-567
    • Seidman, J.G.1    Seidman, C.2
  • 3
    • 4544374719 scopus 로고    scopus 로고
    • Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)
    • Meredith C., Herrmann R., Parry C., et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet 75 4 (2004) 703-708
    • (2004) Am J Hum Genet , vol.75 , Issue.4 , pp. 703-708
    • Meredith, C.1    Herrmann, R.2    Parry, C.3
  • 4
    • 9344223966 scopus 로고    scopus 로고
    • Myopathies associated with myosin heavy chain mutations
    • Oldfors A., Tajsharghi H., Darin N., and Lindberg C. Myopathies associated with myosin heavy chain mutations. Acta Myol 23 2 (2004) 90-96
    • (2004) Acta Myol , vol.23 , Issue.2 , pp. 90-96
    • Oldfors, A.1    Tajsharghi, H.2    Darin, N.3    Lindberg, C.4
  • 5
    • 0026573969 scopus 로고
    • Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
    • Watkins H., Rosenzweig A., Hwang D.S., et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 326 17 (1992) 1108-1114
    • (1992) N Engl J Med , vol.326 , Issue.17 , pp. 1108-1114
    • Watkins, H.1    Rosenzweig, A.2    Hwang, D.S.3
  • 7
    • 0037565113 scopus 로고    scopus 로고
    • Quantitative ultrasonography of skeletal muscles in children: normal values
    • Scholten R.R., Pillen S., Verrips A., and Zwarts M.J. Quantitative ultrasonography of skeletal muscles in children: normal values. Muscle Nerve 27 6 (2003) 693-698
    • (2003) Muscle Nerve , vol.27 , Issue.6 , pp. 693-698
    • Scholten, R.R.1    Pillen, S.2    Verrips, A.3    Zwarts, M.J.4
  • 8
    • 0028813434 scopus 로고
    • Autosomal dominant distal myopathy: linkage to chromosome 14
    • Laing N.G., Laing B.A., Meredith C., et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet 56 2 (1995) 422-427
    • (1995) Am J Hum Genet , vol.56 , Issue.2 , pp. 422-427
    • Laing, N.G.1    Laing, B.A.2    Meredith, C.3
  • 9
    • 19944430431 scopus 로고    scopus 로고
    • Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases
    • Laing N.G., Ceuterick-de G.C., Dye D.E., et al. Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. Neurology 64 3 (2005) 527-529
    • (2005) Neurology , vol.64 , Issue.3 , pp. 527-529
    • Laing, N.G.1    Ceuterick-de, G.C.2    Dye, D.E.3
  • 10
    • 0027221634 scopus 로고
    • Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy
    • Fananapazir L., Dalakas M.C., Cyran F., Cohn G., and Epstein N.D. Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 90 9 (1993) 3993-3997
    • (1993) Proc Natl Acad Sci USA , vol.90 , Issue.9 , pp. 3993-3997
    • Fananapazir, L.1    Dalakas, M.C.2    Cyran, F.3    Cohn, G.4    Epstein, N.D.5
  • 11
    • 32344440565 scopus 로고    scopus 로고
    • Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy
    • Lamont P.J., Udd B., Mastaglia F.L., et al. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry 77 2 (2006) 208-215
    • (2006) J Neurol Neurosurg Psychiatry , vol.77 , Issue.2 , pp. 208-215
    • Lamont, P.J.1    Udd, B.2    Mastaglia, F.L.3
  • 12
    • 0030067394 scopus 로고    scopus 로고
    • A mouse model of familial hypertrophic cardiomyopathy
    • Geisterfer-Lowrance A.A., Christe M., Conner D.A., et al. A mouse model of familial hypertrophic cardiomyopathy. Science 272 5262 (1996) 731-734
    • (1996) Science , vol.272 , Issue.5262 , pp. 731-734
    • Geisterfer-Lowrance, A.A.1    Christe, M.2    Conner, D.A.3
  • 13
    • 0034801287 scopus 로고    scopus 로고
    • Expression profiling of cardiac genes in human hypertrophic cardiomyopathy: insight into the pathogenesis of phenotypes
    • Lim D.S., Roberts R., and Marian A.J. Expression profiling of cardiac genes in human hypertrophic cardiomyopathy: insight into the pathogenesis of phenotypes. J Am Coll Cardiol 38 4 (2001) 1175-1180
    • (2001) J Am Coll Cardiol , vol.38 , Issue.4 , pp. 1175-1180
    • Lim, D.S.1    Roberts, R.2    Marian, A.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.