메뉴 건너뛰기




Volumn 12, Issue 5, 1999, Pages 513-518

Inherited disorders of sarcomeric proteins

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTIN; CRYSTALLIN; DESMIN; NEBULIN; TROPOMYOSIN;

EID: 0033388864     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199910000-00004     Document Type: Review
Times cited : (20)

References (60)
  • 1
    • 0028880602 scopus 로고
    • Inherited disorders of contractile proteins in skeletal and cardiac muscle
    • 1 Laing NG. Inherited disorders of contractile proteins in skeletal and cardiac muscle. Curr Opin Neurol 1995; 8:391-396.
    • (1995) Curr Opin Neurol , vol.8 , pp. 391-396
    • Laing, N.G.1
  • 2
    • 0029037896 scopus 로고
    • The complete primary structure of human nebulin and its correlation to muscle structure
    • 2 Labeit S, Kolmerer B. The complete primary structure of human nebulin and its correlation to muscle structure. J Mol Biol 1995, 248:308-315.
    • (1995) J Mol Biol , vol.248 , pp. 308-315
    • Labeit, S.1    Kolmerer, B.2
  • 3
    • 0028824480 scopus 로고
    • Titins: Giant proteins in charge of muscle ultrastructure and elasticity
    • 3 Labeit S, Kolmerer B. Titins: giant proteins in charge of muscle ultrastructure and elasticity. Science 1995, 270:293-296.
    • (1995) Science , vol.270 , pp. 293-296
    • Labeit, S.1    Kolmerer, B.2
  • 4
    • 0032538660 scopus 로고    scopus 로고
    • The NH2 terminus of titin spans the Z-disc-its interaction with a novel 19-Kd ligand (T-Cap) is required for sarcomeric integrity
    • 4 Gregorio CC, Trombitas K, Centner T, Kolmerer B, Stier G, Kunke K, et al. The NH2 terminus of titin spans the Z-disc-its interaction with a novel 19-Kd ligand (T-Cap) is required for sarcomeric integrity. J Cell Biol 1998; 143:1013-1027.
    • (1998) J Cell Biol , vol.143 , pp. 1013-1027
    • Gregorio, C.C.1    Trombitas, K.2    Centner, T.3    Kolmerer, B.4    Stier, G.5    Kunke, K.6
  • 6
    • 0032948848 scopus 로고    scopus 로고
    • A common nonsense mutation results in alpha-actinin-3 deficiency in the general population
    • 6 North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nature Genet 1999; 21:353-354. This paper demonstrates redundancy of a sarcomeric protein. This might ultimately be of major significance in attempts to treat sarcomeric protein disease.
    • (1999) Nature Genet , vol.21 , pp. 353-354
    • North, K.N.1    Yang, N.2    Wattanasirichaigoon, D.3    Mills, M.4    Easteal, S.5    Beggs, A.H.6
  • 9
    • 0008902089 scopus 로고    scopus 로고
    • Tibial muscular dystrophy (TMD)/ late onset distal myopathy (LODM, Markesbery & Griggs): An update
    • 9 Udd B, Haravuori H, Griggs R, Figlewicz D, de Seze J, Vermersch P, et al. Tibial muscular dystrophy (TMD)/ late onset distal myopathy (LODM, Markesbery & Griggs): an update. Muscle Nerve 1998; (Suppl 7):S6.
    • (1998) Muscle Nerve , Issue.SUPPL. 7
    • Udd, B.1    Haravuori, H.2    Griggs, R.3    Figlewicz, D.4    De Seze, J.5    Vermersch, P.6
  • 10
    • 0028907339 scopus 로고
    • Positional cloning moves from perditional to traditional
    • 10 Collins FS. Positional cloning moves from perditional to traditional. Nature Genet 1995; 9:347-350.
    • (1995) Nature Genet , vol.9 , pp. 347-350
    • Collins, F.S.1
  • 11
    • 12644315058 scopus 로고    scopus 로고
    • Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy
    • 11 Pelin K, Ridanpaa M, Donner K, Wilton S, Krishnarajah J, Laing N, et al. Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy. Eur J Hum Genet 1997; 5:229-234.
    • (1997) Eur J Hum Genet , vol.5 , pp. 229-234
    • Pelin, K.1    Ridanpaa, M.2    Donner, K.3    Wilton, S.4    Krishnarajah, J.5    Laing, N.6
  • 13
    • 0033557437 scopus 로고    scopus 로고
    • M band proteins myomesin and skelemin are encoded by the same gene: Analysis of its organization and expression
    • 13 Steiner F, Weber K, Furst DO. M band proteins myomesin and skelemin are encoded by the same gene: analysis of its organization and expression. Genomics 1999; 56:78-89.
    • (1999) Genomics , vol.56 , pp. 78-89
    • Steiner, F.1    Weber, K.2    Furst, D.O.3
  • 14
    • 0027374159 scopus 로고
    • The globular head domain of titin extends into the center of the sarcomeric M band. cDNA cloning, epitope mapping and immunoelectron microscopy of two titin-associated proteins
    • 14 Vinkemeier U, Obermann W, Weber K, Furst DO. The globular head domain of titin extends into the center of the sarcomeric M band. cDNA cloning, epitope mapping and immunoelectron microscopy of two titin-associated proteins. J Cell Sci 1993; 106:319-330.
    • (1993) J Cell Sci , vol.106 , pp. 319-330
    • Vinkemeier, U.1    Obermann, W.2    Weber, K.3    Furst, D.O.4
  • 16
    • 17344373157 scopus 로고    scopus 로고
    • Missense mutations in desmin associated with familial cardiac and skeletal myopathy
    • 16 Goldfarb LG, Park K-Y, Cervenakova L, Gorokhova S, Lee H-S, Vasconcelos O, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nature Genet 1998; 19:402-403. This paper was the first to identify mutations in the desmin gene in cases of desminopathy. Disease gene identification was obtained with very little family material using a candidate gene approach. Candidate gene approaches are likely to become more frequently used in the future.
    • (1998) Nature Genet , vol.19 , pp. 402-403
    • Goldfarb, L.G.1    Park, K.-Y.2    Cervenakova, L.3    Gorokhova, S.4    Lee, H.-S.5    Vasconcelos, O.6
  • 17
    • 0038669889 scopus 로고    scopus 로고
    • A dysfunctional desmin mutation in a patient with severe generalized myopathy
    • 17 Munoz-Marmol AM, Strasser G, Isamat M, Coulombe PA, Yang YM, Roca X, et al. A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci U S A 1998; 95:11312-11317. This paper similarly identified a mutation in desmin in a single patient with desminopathy.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 11312-11317
    • Munoz-Marmol, A.M.1    Strasser, G.2    Isamat, M.3    Coulombe, P.A.4    Yang, Y.M.5    Roca, X.6
  • 18
  • 19
    • 0031009273 scopus 로고    scopus 로고
    • Congenital myopathy with excess of thin myofilaments
    • 19 Goebel HH, Anderson JR, Hubner C, Oexle K, Warlo I. Congenital myopathy with excess of thin myofilaments. Neuromusc Disord 1997; 7:160-168. This paper identified skeletal muscle 'actinopathy' patients, allowing identification of mutations in the skeletal muscle actin gene as a significant cause of inherited muscle disease.
    • (1997) Neuromusc Disord , vol.7 , pp. 160-168
    • Goebel, H.H.1    Anderson, J.R.2    Hubner, C.3    Oexle, K.4    Warlo, I.5
  • 21
    • 0027221634 scopus 로고
    • Missense mutations in the β-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy
    • 21 Fananapazir L, Dalakas MC, Cyran F, Conn G, Epstein ND. Missense mutations in the β-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 1993; 90:3993-3997.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 3993-3997
    • Fananapazir, L.1    Dalakas, M.C.2    Cyran, F.3    Conn, G.4    Epstein, N.D.5
  • 22
    • 0028178083 scopus 로고
    • α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
    • 22 Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg H-P, et al. α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994; 77:701-712.
    • (1994) Cell , vol.77 , pp. 701-712
    • Thierfelder, L.1    Watkins, H.2    MacRae, C.3    Lamas, R.4    McKenna, W.5    Vosberg, H.-P.6
  • 23
    • 0028852835 scopus 로고
    • A mutation in the α-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
    • 23 Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, et al. A mutation in the α-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nature Genet 1995; 9:75-79.
    • (1995) Nature Genet , vol.9 , pp. 75-79
    • Laing, N.G.1    Wilton, S.D.2    Akkari, P.A.3    Dorosz, S.4    Boundy, K.5    Kneebone, C.6
  • 24
    • 0008937075 scopus 로고    scopus 로고
    • Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with severe infantile nemaline myopathy
    • in press fs20
    • 24 Tan P, Briner J, Boltshauser E, Davis MR, Wilton SD, North K, et al. Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with severe infantile nemaline myopathy. Neuromusc Disord (in press). This paper demonstrated that autosomal recessive, as well as autosomal dominant nemaline myopathy could result from mutations in the α-tropomyosin slow gene.
    • Neuromusc Disord
    • Tan, P.1    Briner, J.2    Boltshauser, E.3    Davis, M.R.4    Wilton, S.D.5    North, K.6
  • 25
    • 0028960871 scopus 로고
    • A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene
    • 25 Chiannilkulchai N, Pasturaud P, Richard I, Auffray C, Beckmann JS. A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene. Hum Mol Genet 1995; 4:717-725.
    • (1995) Hum Mol Genet , vol.4 , pp. 717-725
    • Chiannilkulchai, N.1    Pasturaud, P.2    Richard, I.3    Auffray, C.4    Beckmann, J.S.5
  • 26
    • 0028905205 scopus 로고
    • Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
    • 26 Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchi N, Bourg N, et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995; 81:27-40.
    • (1995) Cell , vol.81 , pp. 27-40
    • Richard, I.1    Broux, O.2    Allamand, V.3    Fougerousse, F.4    Chiannilkulchi, N.5    Bourg, N.6
  • 27
    • 0028886136 scopus 로고
    • Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
    • 27 Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nature Genet 1995; 11:438-440.
    • (1995) Nature Genet , vol.11 , pp. 438-440
    • Bonne, G.1    Carrier, L.2    Bercovici, J.3    Cruaud, C.4    Richard, P.5    Hainque, B.6
  • 28
    • 0028844204 scopus 로고
    • Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy
    • 28 Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ, et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nature Genet 1995; 11:434-437.
    • (1995) Nature Genet , vol.11 , pp. 434-437
    • Watkins, H.1    Conner, D.2    Thierfelder, L.3    Jarcho, J.A.4    MacRae, C.5    McKenna, W.J.6
  • 29
    • 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
    • 29 Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, 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. Nature Genet 1996; 13:63-69.
    • (1996) Nature 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
  • 30
    • 0030765610 scopus 로고    scopus 로고
    • Mutations in the cardiac troponin i gene associated with hypertrophic cardiomyopathy
    • 30 Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, et al. Mutations in the cardiac troponin i gene associated with hypertrophic cardiomyopathy. Nature Genet 1997; 16:379-382.
    • (1997) Nature Genet , vol.16 , pp. 379-382
    • Kimura, A.1    Harada, H.2    Park, J.E.3    Nishi, H.4    Satoh, M.5    Takahashi, M.6
  • 31
    • 0032076955 scopus 로고    scopus 로고
    • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
    • 31 Olson TM, Michels W, Thibodeau SN, Tai Y-S, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 1998; 280:750-752. This paper was the first to identify human disease associated with an actin gene.
    • (1998) Science , vol.280 , pp. 750-752
    • Olson, T.M.1    Michels, W.2    Thibodeau, S.N.3    Tai, Y.-S.4    Keating, M.T.5
  • 33
    • 17344361902 scopus 로고    scopus 로고
    • A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy
    • 33 Vicart P, Caron A, Guicheney P, Li Z, Prevost M, Faure A, et al. A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy. Nature Genet 1998; 20:92-95. This paper importantly demonstrated that mutations of a chaperonin protein could cause disease as well as mutations in the gene for the protein accumulating in the intracellular deposits in the disease.
    • (1998) Nature Genet , vol.20 , pp. 92-95
    • Vicart, P.1    Caron, A.2    Guicheney, P.3    Li, Z.4    Prevost, M.5    Faure, A.6
  • 34
    • 13044312720 scopus 로고    scopus 로고
    • Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
    • 34 Pelin K, Hilpelä P, Donner K, Sewry C, Akkari PA, Wilton SD, et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A 1999; 96:2305-2310. This paper identified mutations in the gene for the giant muscle protein nebulin as the second known genetic cause of nemaline myopathy.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 2305-2310
    • Pelin, K.1    Hilpelä, P.2    Donner, K.3    Sewry, C.4    Akkari, P.A.5    Wilton, S.D.6
  • 35
    • 0003436550 scopus 로고    scopus 로고
    • Center for Medical Genetics, Johns Hopkins University (Baltimore, MD, USA) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD, ISA)
    • 35 On-Line Mendelian Inheritance in Man: OMIM (TM). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD, USA) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD, ISA); 1999. Internet URL: http://www.ncbi.nlm.nih.gov/omim/.
    • (1999) On-line Mendelian Inheritance in Man: OMIM (TM)
  • 36
    • 0032006681 scopus 로고    scopus 로고
    • The role of cytoskeletal proteins in cardiomyopathies
    • 36 Towbin JA. The role of cytoskeletal proteins in cardiomyopathies. Curr Opin Neurol 1998; 10:131-139. This paper provides an excellent review of the role of sarcomeric protein genes in cardiomyopathy.
    • (1998) Curr Opin Neurol , vol.10 , pp. 131-139
    • Towbin, J.A.1
  • 37
    • 0027265702 scopus 로고
    • Brief report: Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy
    • 37 Muntoni F, Cau M, Ganau A, Congiu R, Arvedi G, Mateddu A, et al. Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. Lancet 1993; 329:921-925.
    • (1993) Lancet , vol.329 , pp. 921-925
    • Muntoni, F.1    Cau, M.2    Ganau, A.3    Congiu, R.4    Arvedi, G.5    Mateddu, A.6
  • 38
    • 0033596817 scopus 로고    scopus 로고
    • Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population
    • 38 Chou FL, Angelini C, Daentl D, Garcia C, Greco C, Hausmanowa-Petrusewicz I, et al. Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population. Neurology 1999; 52:1015-1020.
    • (1999) Neurology , vol.52 , pp. 1015-1020
    • Chou, F.L.1    Angelini, C.2    Daentl, D.3    Garcia, C.4    Greco, C.5    Hausmanowa-Petrusewicz, I.6
  • 39
    • 0032941594 scopus 로고    scopus 로고
    • Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IKBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A
    • 39 Baghdiguian S, Martin M, Richard I, Pons F, Astier C, Bourg N, et al. Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IKBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A. Nat Med 1999; 5:503-511.
    • (1999) Nat Med , vol.5 , pp. 503-511
    • Baghdiguian, S.1    Martin, M.2    Richard, I.3    Pons, F.4    Astier, C.5    Bourg, N.6
  • 40
    • 0025043276 scopus 로고
    • Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa
    • 40 Dryja TP, McGee TL, Hahn LB, Cowley GS, Olsson JE, Reichel E, et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med 1990; 323:1302-1307.
    • (1990) N Engl J Med , vol.323 , pp. 1302-1307
    • Dryja, T.P.1    McGee, T.L.2    Hahn, L.B.3    Cowley, G.S.4    Olsson, J.E.5    Reichel, E.6
  • 41
    • 0026878962 scopus 로고
    • A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
    • 41 Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genet 1992; 1:209-213.
    • (1992) Nature Genet , vol.1 , pp. 209-213
    • Rosenfeld, P.J.1    Cowley, G.S.2    McGee, T.L.3    Sandberg, M.A.4    Berson, E.L.5    Dryja, T.P.6
  • 43
    • 0032508463 scopus 로고    scopus 로고
    • Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs
    • 43 Millevoi S, Trombitas K, Kolmerer B, Kostin S, Schaper J, Pelin K, et al. Characterization of Nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs. J Mol Biol 1998; 282:111-123.
    • (1998) J Mol Biol , vol.282 , pp. 111-123
    • Millevoi, S.1    Trombitas, K.2    Kolmerer, B.3    Kostin, S.4    Schaper, J.5    Pelin, K.6
  • 44
    • 0023718118 scopus 로고
    • An explanation for the phenotypic differences between patients bearing partical deletions of the DMD locus
    • 44 Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partical deletions of the DMD locus. Genomics 1988; 2:90-95.
    • (1988) Genomics , vol.2 , pp. 90-95
    • Monaco, A.P.1    Bertelson, C.J.2    Liechti-Gallati, S.3    Moser, H.4    Kunkel, L.M.5
  • 45
    • 0028156910 scopus 로고
    • Assignment of the human skeletal muscle alpha actin gene (ACTA1) to 1q42 by fluorescence in situ hybridisation
    • 45 Akkari PA, Eyre H, Wilton SD, Callen DC, Lane SA, Meredith C, et al. Assignment of the human skeletal muscle alpha actin gene (ACTA1) to 1q42 by fluorescence in situ hybridisation. Cytogenet Cell Genet 1994; 65:265-267.
    • (1994) Cytogenet Cell Genet , vol.65 , pp. 265-267
    • Akkari, P.A.1    Eyre, H.2    Wilton, S.D.3    Callen, D.C.4    Lane, S.A.5    Meredith, C.6
  • 47
    • 0029814021 scopus 로고    scopus 로고
    • Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy
    • 47 Vicart P, Dupret JM, Hazan J, Li ZL, Gyapay G, Krishnamoorthy R, et al. Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. Hum Genet 1996; 98:422-429.
    • (1996) Hum Genet , vol.98 , pp. 422-429
    • Vicart, P.1    Dupret, J.M.2    Hazan, J.3    Li, Z.L.4    Gyapay, G.5    Krishnamoorthy, R.6
  • 48
    • 0028285323 scopus 로고
    • Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments
    • 48 Muntoni F, Catani G, Mateddu A, Rimoldi M, Congiu T, Faa G, et al. Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments. Neuromusc Disord 1994; 4:233-241.
    • (1994) Neuromusc Disord , vol.4 , pp. 233-241
    • Muntoni, F.1    Catani, G.2    Mateddu, A.3    Rimoldi, M.4    Congiu, T.5    Faa, G.6
  • 50
    • 0022239695 scopus 로고
    • The presence of two skeletal muscle α-actinins correlates with troponin-tropomyosin expression and Z- line width
    • 50 Schachat FH, Canine AC, Briggs MM, Reedy MC. The presence of two skeletal muscle α-actinins correlates with troponin-tropomyosin expression and Z-line width. J Cell Biol 1985; 101:1001-1008.
    • (1985) J Cell Biol , vol.101 , pp. 1001-1008
    • Schachat, F.H.1    Canine, A.C.2    Briggs, M.M.3    Reedy, M.C.4
  • 51
    • 0030220198 scopus 로고    scopus 로고
    • Deficiency of a skeletal muscle isoform of α-actinin (α-actinin 3) in merosin positive congenital muscular dystrophy
    • 51 North KN, Beggs AH. Deficiency of a skeletal muscle isoform of α-actinin (α-actinin 3) in merosin positive congenital muscular dystrophy. Neuromusc Disord 1996; 6:229-235.
    • (1996) Neuromusc Disord , vol.6 , pp. 229-235
    • North, K.N.1    Beggs, A.H.2
  • 54
    • 0031881056 scopus 로고    scopus 로고
    • N lines in a myopathy with myosin loss
    • 54 Lopate G, Pestronk A, Yee WC. N lines in a myopathy with myosin loss. Muscle Nerve 1998; 21:1216-1219.
    • (1998) Muscle Nerve , vol.21 , pp. 1216-1219
    • Lopate, G.1    Pestronk, A.2    Yee, W.C.3
  • 55
    • 0031700768 scopus 로고    scopus 로고
    • The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis
    • 55 Amato AA, Kagan-Hallet K, Jackson CE, Lampkin S, Wolfe GI, Ferrante M, et al. The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. Neurology 1998; 51:1646-1655.
    • (1998) Neurology , vol.51 , pp. 1646-1655
    • Amato, A.A.1    Kagan-Hallet, K.2    Jackson, C.E.3    Lampkin, S.4    Wolfe, G.I.5    Ferrante, M.6
  • 56
    • 0031901170 scopus 로고    scopus 로고
    • Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: A disorder in three unrelated Dutch families
    • 56 Barth PG, Wanders RJA, Ruitenbeek W, Roe C, Scholte HR, Vanderharten H, et al. Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families. Neuromusc Disord 1998; 8:296-304.
    • (1998) Neuromusc Disord , vol.8 , pp. 296-304
    • Barth, P.G.1    Wanders, R.J.A.2    Ruitenbeek, W.3    Roe, C.4    Scholte, H.R.5    Vanderharten, H.6
  • 59
    • 0031730433 scopus 로고    scopus 로고
    • Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy
    • 59 Kemp S, Wei HM, Lu JF, Braiterman LT, McGuinness MC, Moser AB, et al. Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy. Nature Med 1998; 4:1261-1268. This paper demonstrates that upregulation of an alternate gene may successfully treat an animal model of adrenoleukodystrophy.
    • (1998) Nature Med , vol.4 , pp. 1261-1268
    • Kemp, S.1    Wei, H.M.2    Lu, J.F.3    Braiterman, L.T.4    McGuinness, M.C.5    Moser, A.B.6
  • 60
    • 0031775820 scopus 로고    scopus 로고
    • Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice
    • 60 Rafal JA, Tinsley JM, Potter AC, Deconinck AE, Davies KE. Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice. Nature Genet 1998; 19:79-82.
    • (1998) Nature Genet , vol.19 , pp. 79-82
    • Rafal, J.A.1    Tinsley, J.M.2    Potter, A.C.3    Deconinck, A.E.4    Davies, K.E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.