메뉴 건너뛰기




Volumn 64, Issue 5, 1999, Pages 1420-1426

Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN HEAVY CHAIN;

EID: 0033362087     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302375     Document Type: Article
Times cited : (41)

References (35)
  • 2
    • 0021320516 scopus 로고
    • "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews
    • Argov Z, Yarom R (1984) "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci 64:33-43
    • (1984) J Neurol Sci , vol.64 , pp. 33-43
    • Argov, Z.1    Yarom, R.2
  • 3
    • 0031768071 scopus 로고    scopus 로고
    • Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: Current concepts of diagnosis and pathogenesis
    • Askanas V, Engel WK (1998a) Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: current concepts of diagnosis and pathogenesis. Curr Opin Rheumatol 10:530-542
    • (1998) Curr Opin Rheumatol , vol.10 , pp. 530-542
    • Askanas, V.1    Engel, W.K.2
  • 4
    • 0031728797 scopus 로고    scopus 로고
    • Sporadic inclusion-body myositis and its similarities to Alzheimer disease brain: Recent approaches to diagnosis and pathogenesis, and relation to aging
    • Askanas V, Engel WK (1998b) Sporadic inclusion-body myositis and its similarities to Alzheimer disease brain: recent approaches to diagnosis and pathogenesis, and relation to aging. Scand J Rheumatol 27:389-405
    • (1998) Scand J Rheumatol , vol.27 , pp. 389-405
    • Askanas, V.1    Engel, W.K.2
  • 5
    • 0026321407 scopus 로고
    • Statistical methods for multipoint radiation hybrid mapping
    • Boehnke M, Lange K, Cox DR (1991) Statistical methods for multipoint radiation hybrid mapping. Am J Hum Genet 49:1174-1188
    • (1991) Am J Hum Genet , vol.49 , pp. 1174-1188
    • Boehnke, M.1    Lange, K.2    Cox, D.R.3
  • 6
    • 0032231877 scopus 로고    scopus 로고
    • Comprehensive human genetic maps: Individual and sex-specific variation in recombination
    • Broman KW, Murray JC, Sheffield VC, White RL, Weber JL (1998) Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 63:861-869
    • (1998) Am J Hum Genet , vol.63 , pp. 861-869
    • Broman, K.W.1    Murray, J.C.2    Sheffield, V.C.3    White, R.L.4    Weber, J.L.5
  • 7
    • 0025132036 scopus 로고
    • Presence of inclusion body myositis-like filaments in oculopharyngeal muscular dystrophy: Ultrastructural study of 10 cases
    • Coquet M, Vital C, Julien J (1990) Presence of inclusion body myositis-like filaments in oculopharyngeal muscular dystrophy: ultrastructural study of 10 cases. Neuropathol Appl Neurobiol 16:393-400
    • (1990) Neuropathol Appl Neurobiol , vol.16 , pp. 393-400
    • Coquet, M.1    Vital, C.2    Julien, J.3
  • 8
    • 0031830345 scopus 로고    scopus 로고
    • Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia and rimmed vacuoles
    • Darin N, Kyllerman M, Wahlström J, Martinsson T, Oldfors A (1998) Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia and rimmed vacuoles. Ann Neurol 44:242-248
    • (1998) Ann Neurol , vol.44 , pp. 242-248
    • Darin, N.1    Kyllerman, M.2    Wahlström, J.3    Martinsson, T.4    Oldfors, A.5
  • 9
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6    Millasseau, P.7
  • 10
    • 0027221634 scopus 로고
    • Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy
    • Fananapazir L, Dalakas MC, Cyran F, Cohn G, Epstein ND (1993) Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 90:3993-3997
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 3993-3997
    • Fananapazir, L.1    Dalakas, M.C.2    Cyran, F.3    Cohn, G.4    Epstein, N.D.5
  • 12
    • 0019992254 scopus 로고
    • Oculopharyngeal muscular dystrophy and distal myopathy. Intrafamilial difference in the onset and distribution of muscular involvement
    • Fukuhara N, Kumamoto T, Tsubaki T, Mayuzumi T, Nitta H (1982) Oculopharyngeal muscular dystrophy and distal myopathy. Intrafamilial difference in the onset and distribution of muscular involvement. Acta Neurol Scand 65:458-467
    • (1982) Acta Neurol Scand , vol.65 , pp. 458-467
    • Fukuhara, N.1    Kumamoto, T.2    Tsubaki, T.3    Mayuzumi, T.4    Nitta, H.5
  • 15
    • 0030933296 scopus 로고    scopus 로고
    • Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9
    • Ikeuchi T, Asaka T, Saito M, Tanaka H, Higuchi S, Tanaka K, Saida K, et al (1997) Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol 41:432-437
    • (1997) Ann Neurol , vol.41 , pp. 432-437
    • Ikeuchi, T.1    Asaka, T.2    Saito, M.3    Tanaka, H.4    Higuchi, S.5    Tanaka, K.6    Saida, K.7
  • 19
    • 0020601766 scopus 로고
    • Multigene family for sarcomeric myosin heavy chain in mouse and human DNA: Localization on a single chromosome
    • Leinwand LA, Fournier RE, Nadal Ginard B, Shows TB (1983) Multigene family for sarcomeric myosin heavy chain in mouse and human DNA: localization on a single chromosome. Science 221:766-769
    • (1983) Science , vol.221 , pp. 766-769
    • Leinwand, L.A.1    Fournier, R.E.2    Nadal Ginard, B.3    Shows, T.B.4
  • 20
    • 0025845359 scopus 로고
    • Inclusion body myositis and Welander distal myopathy: A clinical, neurophysiological and morphological comparison
    • Lindberg C, Borg K, Edström L, Hedström A, Oldfors A (1991) Inclusion body myositis and Welander distal myopathy: a clinical, neurophysiological and morphological comparison. J Neurol Sci 103:76-81
    • (1991) J Neurol Sci , vol.103 , pp. 76-81
    • Lindberg, C.1    Borg, K.2    Edström, L.3    Hedström, A.4    Oldfors, A.5
  • 21
    • 0008533975 scopus 로고
    • Familial inclusion body myositis (IBM) mimics facioscapulohumeral dystrophy (FSHD)
    • McKee D, Karpati G, Carpenter S, Johnston W (1992) Familial inclusion body myositis (IBM) mimics facioscapulohumeral dystrophy (FSHD). Neurology 42(suppl):302
    • (1992) Neurology , vol.42 , Issue.SUPPL. , pp. 302
    • McKee, D.1    Karpati, G.2    Carpenter, S.3    Johnston, W.4
  • 25
    • 0019481203 scopus 로고
    • Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
    • Nonaka I, Sunohara N, Ishiura S, Satoyoshi E (1981) Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Ssi 51:141-155
    • (1981) J Neurol Ssi , vol.51 , pp. 141-155
    • Nonaka, I.1    Sunohara, N.2    Ishiura, S.3    Satoyoshi, E.4
  • 26
    • 0032076955 scopus 로고    scopus 로고
    • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
    • Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT (1998) Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280:750-752
    • (1998) Science , vol.280 , pp. 750-752
    • Olson, T.M.1    Michels, V.V.2    Thibodeau, S.N.3    Tai, Y.S.4    Keating, M.T.5
  • 27
    • 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, Master SR, Chang A, Dalakas MC, Rayment I, et al (1996) 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 13:63-69
    • (1996) Nat Genet , vol.13 , pp. 63-69
    • Poetter, K.1    Jiang, H.2    Hassanzadeh, S.3    Master, S.R.4    Chang, A.5    Dalakas, M.C.6    Rayment, I.7
  • 29
    • 0029826654 scopus 로고    scopus 로고
    • The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews
    • Sivakumar K, Dalakas MC (1996) The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews. Neurology 47:977-984
    • (1996) Neurology , vol.47 , pp. 977-984
    • Sivakumar, K.1    Dalakas, M.C.2
  • 30
    • 0027263928 scopus 로고
    • Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome
    • Soussi Yanicostas N, Whalen RG, Petit C (1993) Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome. Hum Mol Genet 2:563-569
    • (1993) Hum Mol Genet , vol.2 , pp. 563-569
    • Soussi Yanicostas, N.1    Whalen, R.G.2    Petit, C.3
  • 31
    • 0032006681 scopus 로고    scopus 로고
    • The role of cytoskeletal proteins in cardiomyopathies
    • Towbin JA (1998) The role of cytoskeletal proteins in cardiomyopathies. Curr Opin Cell Biol 10:131-139
    • (1998) Curr Opin Cell Biol , vol.10 , pp. 131-139
    • Towbin, J.A.1
  • 34
    • 0021925453 scopus 로고
    • Co-expression of multiple myosin heavy chain genes in addition to a tissue-specific one, in extraocular musculature
    • Wieczorek DF, Periasamy M, Butler-Browne GS, Whalen RG, Nadal-Ginard B (1985) Co-expression of multiple myosin heavy chain genes in addition to a tissue-specific one, in extraocular musculature. J Cell Biol 101:618-629
    • (1985) J Cell Biol , vol.101 , pp. 618-629
    • Wieczorek, D.F.1    Periasamy, M.2    Butler-Browne, G.S.3    Whalen, R.G.4    Nadal-Ginard, B.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.