메뉴 건너뛰기




Volumn 64, Issue 3, 2005, Pages 181-193

Diagnostic immunohistology of muscle diseases

Author keywords

Congenital myopathies; Immunohistochemistry; Inflammatory myopathies; Muscular dystrophies; Skeletal muscle

Indexed keywords

ACTIN; ADHALIN; ALPHA ACTININ; CALPAIN 3; CAVEOLIN 3; COLLAGEN TYPE 6; CONNECTIN; CYTOSKELETON PROTEIN; DESMIN; DYSFERLIN; DYSTROGLYCAN; DYSTROPHIN; EMERIN; LAMIN A; LAMIN C; LAMININ; MYOSIN; PERLECAN; SARCOGLYCAN;

EID: 15244360091     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1093/jnen/64.3.181     Document Type: Review
Times cited : (43)

References (78)
  • 1
    • 0038250199 scopus 로고    scopus 로고
    • Histochemistry and immunocytochemistry of muscle in health and disease
    • Karpati G, Hilton-Jones D, Griggs RC, eds. New York: Cambridge University Press
    • Sewry CA, Dubowitz V. Histochemistry and immunocytochemistry of muscle in health and disease. In: Karpati G, Hilton-Jones D, Griggs RC, eds. Disorders of Voluntary Muscle, 7th ed. New York: Cambridge University Press, 2001:257
    • (2001) Disorders of Voluntary Muscle, 7th Ed. , pp. 257
    • Sewry, C.A.1    Dubowitz, V.2
  • 2
    • 10544230641 scopus 로고    scopus 로고
    • Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy
    • Pegoraro E, Mancias P, Swerdlow SH, et al. Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy. Ann Neurol 1996;40:782-91
    • (1996) Ann Neurol , vol.40 , pp. 782-791
    • Pegoraro, E.1    Mancias, P.2    Swerdlow, S.H.3
  • 3
    • 0030800066 scopus 로고    scopus 로고
    • Immunohistochemical study of merosin-negative congenital muscular dystrophy: Laminin alpha 2 deficiency in skin biopsy
    • Berl
    • Marbini A, Bellanova MF, Ferrari A, et al. Immunohistochemical study of merosin-negative congenital muscular dystrophy: Laminin alpha 2 deficiency in skin biopsy. Acta Neuropathol (Berl) 1997;94:103-8
    • (1997) Acta Neuropathol , vol.94 , pp. 103-108
    • Marbini, A.1    Bellanova, M.F.2    Ferrari, A.3
  • 4
    • 0031594943 scopus 로고    scopus 로고
    • Laminin alpha2 chain-deficient congenital muscular dystrophy: Variable epitope expression in severe and mild cases
    • Cohn RD, Hermann R, Sorokin L, et al. Laminin alpha2 chain-deficient congenital muscular dystrophy: Variable epitope expression in severe and mild cases. Neurology 1998;51:94-100
    • (1998) Neurology , vol.51 , pp. 94-100
    • Cohn, R.D.1    Hermann, R.2    Sorokin, L.3
  • 5
    • 0030879625 scopus 로고    scopus 로고
    • Changes of laminin beta 2 chain expression in congenital muscular dystrophy
    • Cohn RD, Herrmann R, Wewer UM, et al. Changes of laminin beta 2 chain expression in congenital muscular dystrophy. Neuromuscul Disord 1997;7:373-78
    • (1997) Neuromuscul Disord , vol.7 , pp. 373-378
    • Cohn, R.D.1    Herrmann, R.2    Wewer, U.M.3
  • 6
    • 0030809116 scopus 로고    scopus 로고
    • Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies
    • Hodges BL, Hayashi YK, Nonaka I, et al. Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies. J Cell Sci 1997;110 (Pt 22):2873-81
    • (1997) J Cell Sci , vol.110 , Issue.22 PART , pp. 2873-2881
    • Hodges, B.L.1    Hayashi, Y.K.2    Nonaka, I.3
  • 7
    • 0035212037 scopus 로고    scopus 로고
    • Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan
    • Brockington M, Blake DJ, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 2001;69:1198-209
    • (2001) Am J Hum Genet , vol.69 , pp. 1198-1209
    • Brockington, M.1    Blake, D.J.2    Prandini, P.3
  • 8
    • 0037526575 scopus 로고    scopus 로고
    • Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome
    • Jimenez-Mallebrera C, Torelli S, Brown SC, et al. Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome. Eur J Paediatr Neurol 2003;7:129-37
    • (2003) Eur J Paediatr Neurol , vol.7 , pp. 129-137
    • Jimenez-Mallebrera, C.1    Torelli, S.2    Brown, S.C.3
  • 9
    • 0037461292 scopus 로고    scopus 로고
    • The phenotype of limb-girdle muscular dystrophy type 2I
    • Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology 2003;60:1246-51
    • (2003) Neurology , vol.60 , pp. 1246-1251
    • Poppe, M.1    Cree, L.2    Bourke, J.3
  • 10
    • 85039398247 scopus 로고    scopus 로고
    • Collagen VI gene mutations: Bethlem myopathy/limb-girdle muscular dystrophy
    • Karpati G, ed. Basel: ISN Neuropath Press
    • Hoffman EP, Pegoraro E. Collagen VI gene mutations: Bethlem myopathy/limb-girdle muscular dystrophy. In: Karpati G, ed. Structural and Molecular Basis of Skeletal Muscle Diseases. Basel: ISN Neuropath Press, 2002:42
    • (2002) Structural and Molecular Basis of Skeletal Muscle Diseases , pp. 42
    • Hoffman, E.P.1    Pegoraro, E.2
  • 11
    • 0033004886 scopus 로고    scopus 로고
    • Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy
    • Merlini L, Villanova M, Sabatelli P, et al. Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. Neuromuscul Disord 1999;9:326-29
    • (1999) Neuromuscul Disord , vol.9 , pp. 326-329
    • Merlini, L.1    Villanova, M.2    Sabatelli, P.3
  • 12
    • 9044223654 scopus 로고    scopus 로고
    • Clinical heterogeneity of adhalin deficiency
    • Morandi L, Barresi R, Di Blasi C, et al. Clinical heterogeneity of adhalin deficiency. Ann Neurol 1996;39:196-202
    • (1996) Ann Neurol , vol.39 , pp. 196-202
    • Morandi, L.1    Barresi, R.2    Di Blasi, C.3
  • 13
    • 1342266974 scopus 로고    scopus 로고
    • Ullrich disease due to deficiency of collagen VI in the sarcolemma
    • Ishikawa H, Sugie K, Murayama K, et al. Ullrich disease due to deficiency of collagen VI in the sarcolemma. Neurology 2004;62:620-23
    • (2004) Neurology , vol.62 , pp. 620-623
    • Ishikawa, H.1    Sugie, K.2    Murayama, K.3
  • 14
    • 23744477107 scopus 로고    scopus 로고
    • The congenital muscular dystrophies
    • Engel AG, Franzini-Armstrong C, eds. New York: McGraw-Hill
    • Voit T, Tome FMS. The congenital muscular dystrophies. In: Engel AG, Franzini-Armstrong C, eds. Myology, vol. 2. New York: McGraw-Hill, 2004:1230
    • (2004) Myology, Vol. 2 , vol.2 , pp. 1230
    • Voit, T.1    Tome, F.M.S.2
  • 15
    • 3042784502 scopus 로고    scopus 로고
    • Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry
    • Brockington M, Brown SC, Lampe A, et al. Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. Prenat Diagn 2004;24:440-44
    • (2004) Prenat Diagn , vol.24 , pp. 440-444
    • Brockington, M.1    Brown, S.C.2    Lampe, A.3
  • 16
    • 0025316225 scopus 로고
    • Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy
    • Berl
    • Nicholson LV, Johnson MA, Gardner-Medwin D, et al. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol (Berl) 1990;80:239-50
    • (1990) Acta Neuropathol , vol.80 , pp. 239-250
    • Nicholson, L.V.1    Johnson, M.A.2    Gardner-Medwin, D.3
  • 17
    • 0002273549 scopus 로고    scopus 로고
    • Dystrophinopathies
    • Karpati G, Hilton-Jones D, Griggs RC, eds. New York: Cambridge University Press
    • Hoffman EP. Dystrophinopathies. In: Karpati G, Hilton-Jones D, Griggs RC, eds. Disorders of Voluntary Muscle, 7th ed. New York: Cambridge University Press, 2001:385-432
    • (2001) Disorders of Voluntary Muscle, 7th Ed. , pp. 385-432
    • Hoffman, E.P.1
  • 18
    • 0025320994 scopus 로고
    • Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin, and phenotype-genotype correlation
    • Hu XY, Ray PN, Murphy EG, et al. Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin, and phenotype-genotype correlation. Am J Hum Genet 1990;46:682-95
    • (1990) Am J Hum Genet , vol.46 , pp. 682-695
    • Hu, X.Y.1    Ray, P.N.2    Murphy, E.G.3
  • 19
    • 0033054404 scopus 로고    scopus 로고
    • In utero fetal muscle biopsy: A precious aid for the prenatal diagnosis of Duchenne muscular dystrophy
    • Heckel S, Favre R, Flori J, et al. In utero fetal muscle biopsy: A precious aid for the prenatal diagnosis of Duchenne muscular dystrophy. Fetal Diagn Ther 1999;14:127-32
    • (1999) Fetal Diagn Ther , vol.14 , pp. 127-132
    • Heckel, S.1    Favre, R.2    Flori, J.3
  • 20
    • 0036194710 scopus 로고    scopus 로고
    • Diagnosis of dystrophinopathy by skin biopsy
    • Niiyama T, Higuchi I, Sakoda S, et al. Diagnosis of dystrophinopathy by skin biopsy. Muscle Nerve 2002;25:398-401
    • (2002) Muscle Nerve , vol.25 , pp. 398-401
    • Niiyama, T.1    Higuchi, I.2    Sakoda, S.3
  • 21
    • 0026073472 scopus 로고
    • Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy
    • Arahata K, Beggs AH, Honda H, et al. Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy. J Neurol Sci 1991;101:148-56
    • (1991) J Neurol Sci , vol.101 , pp. 148-156
    • Arahata, K.1    Beggs, A.H.2    Honda, H.3
  • 23
    • 0027200405 scopus 로고
    • Functional significance of dystrophin positive fibers in Duchenne muscular dystrophy
    • Nicholson LV, Johnson MA, Bushby KM, et al. Functional significance of dystrophin positive fibers in Duchenne muscular dystrophy. Arch Dis Child 1993;68:632-36
    • (1993) Arch Dis Child , vol.68 , pp. 632-636
    • Nicholson, L.V.1    Johnson, M.A.2    Bushby, K.M.3
  • 24
    • 0029810520 scopus 로고    scopus 로고
    • Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: Threshold effect for deletion size?
    • Fanin M, Freda MP, Vitiello L, et al. Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: Threshold effect for deletion size? Muscle Nerve 1996;19:1154-60
    • (1996) Muscle Nerve , vol.19 , pp. 1154-1160
    • Fanin, M.1    Freda, M.P.2    Vitiello, L.3
  • 25
    • 0027365063 scopus 로고
    • Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy
    • Nguyen TM, Morris GE. Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy. Am J Hum Genet 1993;52:1057-66
    • (1993) Am J Hum Genet , vol.52 , pp. 1057-1066
    • Nguyen, T.M.1    Morris, G.E.2
  • 26
    • 0027249415 scopus 로고
    • Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathologic data. Part 2. Correlations within individual patients
    • Nicholson LV, Johnson MA, Bushby KM, et al. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathologic data. Part 2. Correlations within individual patients. J Med Genet 1993;30:737-44
    • (1993) J Med Genet , vol.30 , pp. 737-744
    • Nicholson, L.V.1    Johnson, M.A.2    Bushby, K.M.3
  • 27
    • 0036866960 scopus 로고    scopus 로고
    • Clarifying the boundaries between the inflammatory and dystrophic myopathies: Insights from molecular diagnostics and microarrays
    • Hoffman EP, Rao D, Pachman LM. Clarifying the boundaries between the inflammatory and dystrophic myopathies: Insights from molecular diagnostics and microarrays. Rheum Dis Clin North Am 2002;28:743-57
    • (2002) Rheum Dis Clin North Am , vol.28 , pp. 743-757
    • Hoffman, E.P.1    Rao, D.2    Pachman, L.M.3
  • 28
    • 0028904169 scopus 로고
    • Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: Evidence for failure of dystrophin production in dystrophin-competent myonuclei
    • Pegoraro E, Schimke RN, Garcia C, et al. Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: Evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurology 1995;45:677-90
    • (1995) Neurology , vol.45 , pp. 677-690
    • Pegoraro, E.1    Schimke, R.N.2    Garcia, C.3
  • 29
    • 0027432042 scopus 로고
    • Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having inframe deletions in the rod domain of dystrophin
    • Matsumura K, Nonaka I, Tome FM, et al. Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having inframe deletions in the rod domain of dystrophin. Am J Hum Genet 1993;53:409-16
    • (1993) Am J Hum Genet , vol.53 , pp. 409-416
    • Matsumura, K.1    Nonaka, I.2    Tome, F.M.3
  • 30
    • 0027176661 scopus 로고
    • Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin
    • Matsumura K, Tome FM, Ionasescu V, et al. Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin. J Clin Invest 1993;92:866-71
    • (1993) J Clin Invest , vol.92 , pp. 866-871
    • Matsumura, K.1    Tome, F.M.2    Ionasescu, V.3
  • 31
    • 0035141941 scopus 로고    scopus 로고
    • Confocal analysis of the dystrophin protein complex in muscular dystrophy
    • Draviam R, Billington L, Senchak A, et al. Confocal analysis of the dystrophin protein complex in muscular dystrophy. Muscle Nerve 2001;24:262-72
    • (2001) Muscle Nerve , vol.24 , pp. 262-272
    • Draviam, R.1    Billington, L.2    Senchak, A.3
  • 32
    • 0026460270 scopus 로고
    • The dystrophin-related protein, utrophin, is expressed on the sarcolemma of regenerating human skeletal muscle fibers in dystrophies and inflammatory myopathies
    • Helliwell TR, Man NT, Morris GE, et al. The dystrophin-related protein, utrophin, is expressed on the sarcolemma of regenerating human skeletal muscle fibers in dystrophies and inflammatory myopathies. Neuromuscul Disord 1992;2:177-84
    • (1992) Neuromuscul Disord , vol.2 , pp. 177-184
    • Helliwell, T.R.1    Man, N.T.2    Morris, G.E.3
  • 33
    • 0026319372 scopus 로고
    • Dystrophin abnormalities in polymyositis and dermatomyositis
    • Sewry CA, Clerk A, Heckmatt JZ, et al. Dystrophin abnormalities in polymyositis and dermatomyositis. Neuromuscul Disord 1991;1:333-39
    • (1991) Neuromuscul Disord , vol.1 , pp. 333-339
    • Sewry, C.A.1    Clerk, A.2    Heckmatt, J.Z.3
  • 34
    • 0035838362 scopus 로고    scopus 로고
    • Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy
    • Hayashi YK, Ogawa M, Tagawa K, et al. Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology 2001;57:115-21
    • (2001) Neurology , vol.57 , pp. 115-121
    • Hayashi, Y.K.1    Ogawa, M.2    Tagawa, K.3
  • 36
    • 0033793971 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy: One gene with different phenotypes, one phenotype with different genes
    • Zatz M, Vainzof M, Passos-Bueno MR. Limb-girdle muscular dystrophy: One gene with different phenotypes, one phenotype with different genes. Curr Opin Neurol 2000;13:511-17
    • (2000) Curr Opin Neurol , vol.13 , pp. 511-517
    • Zatz, M.1    Vainzof, M.2    Passos-Bueno, M.R.3
  • 37
    • 15244339846 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy in the USA: Distribution of immunophenotypes and genotypes from an ongoing multicenter collaborative study
    • Moore S, Shilling C, Westra S, et al. Limb-girdle muscular dystrophy in the USA: Distribution of immunophenotypes and genotypes from an ongoing multicenter collaborative study. J Neuropathol Exp Neurol 2004;63:532
    • (2004) J Neuropathol Exp Neurol , vol.63 , pp. 532
    • Moore, S.1    Shilling, C.2    Westra, S.3
  • 38
    • 0036166835 scopus 로고    scopus 로고
    • Primary gamma-sarcoglycanopathy (LGMD 2C): Broadening of the mutational spectrum guided by the immunohistochemical profile
    • Bonnemann CG, Wong J, Jones KJ, et al. Primary gamma-sarcoglycanopathy (LGMD 2C): Broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscul Disord 2002;12:273-80
    • (2002) Neuromuscul Disord , vol.12 , pp. 273-280
    • Bonnemann, C.G.1    Wong, J.2    Jones, K.J.3
  • 39
    • 17344365600 scopus 로고    scopus 로고
    • Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
    • Liu J, Aoki M, Illa I, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998;20:31-36
    • (1998) Nat Genet , vol.20 , pp. 31-36
    • Liu, J.1    Aoki, M.2    Illa, I.3
  • 40
    • 0032955751 scopus 로고    scopus 로고
    • Dysferlin is a plasma membrane protein and is expressed early in human development
    • Anderson LV, Davison K, Moss JA, et al. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet 1999;8:855-61
    • (1999) Hum Mol Genet , vol.8 , pp. 855-861
    • Anderson, L.V.1    Davison, K.2    Moss, J.A.3
  • 42
    • 4444324529 scopus 로고    scopus 로고
    • Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome
    • Chrobakova T, Hermanova M, Kroupova II, et al. Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome. Neuromuscul Disord 2004;14:659-65
    • (2004) Neuromuscul Disord , vol.14 , pp. 659-665
    • Chrobakova, T.1    Hermanova, M.2    Kroupova, I.I.3
  • 43
    • 0035846620 scopus 로고    scopus 로고
    • Inflammation in dysferlin myopathy: Immunohistochemical characterization of 13 patients
    • Gallardo E, Rojas-Garcia R, de Luna N, et al. Inflammation in dysferlin myopathy: Immunohistochemical characterization of 13 patients. Neurology 2001;57:2136-38
    • (2001) Neurology , vol.57 , pp. 2136-2138
    • Gallardo, E.1    Rojas-Garcia, R.2    De Luna, N.3
  • 44
    • 1342267006 scopus 로고    scopus 로고
    • Caveolinopathies: Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases
    • Woodman SE, Sotgia F, Galbiati F, et al. Caveolinopathies: Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. Neurology 2004;62:538-43
    • (2004) Neurology , vol.62 , pp. 538-543
    • Woodman, S.E.1    Sotgia, F.2    Galbiati, F.3
  • 45
    • 0031009273 scopus 로고    scopus 로고
    • Congenital myopathy with excess of thin myofilaments
    • Goebel HH, Anderson JR, Hubner C, et al. Congenital myopathy with excess of thin myofilaments. Neuromuscul Disord 1997;7:160-68
    • (1997) Neuromuscul Disord , vol.7 , pp. 160-168
    • Goebel, H.H.1    Anderson, J.R.2    Hubner, C.3
  • 46
    • 0019924573 scopus 로고
    • Nemaline myopathy rod bodies: Structure and composition
    • Yamaguchi M, Robson RM, Stromer MH, et al. Nemaline myopathy rod bodies: Structure and composition. J Neurol Sci 1982;56:35-56
    • (1982) J Neurol Sci , vol.56 , pp. 35-56
    • Yamaguchi, M.1    Robson, R.M.2    Stromer, M.H.3
  • 47
    • 0037407386 scopus 로고    scopus 로고
    • Congenital myopathies at their molecular dawning
    • Goebel HH. Congenital myopathies at their molecular dawning. Muscle Nerve 2003;27:527-48
    • (2003) Muscle Nerve , vol.27 , pp. 527-548
    • Goebel, H.H.1
  • 48
    • 25444521191 scopus 로고    scopus 로고
    • Congenital Myopathies
    • Engel AG, Franzini-Armstrong C, eds. New York: McGraw-Hill
    • North K. Congenital Myopathies. In: Engel AG, Franzini-Armstrong C, eds. Myology, vol. 2, 3rd ed. New York: McGraw-Hill, 2004:1486
    • (2004) Myology, Vol. 2, 3rd Ed. , vol.2 , pp. 1486
    • North, K.1
  • 49
    • 1942473823 scopus 로고    scopus 로고
    • Mutations in myotilin cause myofibrillar myopathy
    • Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology 2004;62:1363-71
    • (2004) Neurology , vol.62 , pp. 1363-1371
    • Selcen, D.1    Engel, A.G.2
  • 50
    • 0034284682 scopus 로고    scopus 로고
    • Myotilin is mutated in limb girdle muscular dystrophy 1A
    • Hauser MA, Horrigan SK, Salmikangas P, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000;9:2141-47
    • (2000) Hum Mol Genet , vol.9 , pp. 2141-2147
    • Hauser, M.A.1    Horrigan, S.K.2    Salmikangas, P.3
  • 51
    • 0033954004 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
    • Moreira ES, Wiltshire TJ, Faulkner G, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000;24:163-66
    • (2000) Nat Genet , vol.24 , pp. 163-166
    • Moreira, E.S.1    Wiltshire, T.J.2    Faulkner, G.3
  • 52
    • 0034839747 scopus 로고    scopus 로고
    • Immunolabeling, histochemistry and in situ hybridisation in human skeletal muscle fibers to detect myosin heavy chain expression at the protein and mRNA level
    • Serrano AL, Perez M, Lucia A, et al. Immunolabeling, histochemistry and in situ hybridisation in human skeletal muscle fibers to detect myosin heavy chain expression at the protein and mRNA level. J Anat 2001;199:329-37
    • (2001) J Anat , vol.199 , pp. 329-337
    • Serrano, A.L.1    Perez, M.2    Lucia, A.3
  • 53
    • 0033950673 scopus 로고    scopus 로고
    • Acute quadriplegia and loss of muscle myosin in patients treated with nondepolarizing neuromuscular blocking agents and corticosteroids: Mechanisms at the cellular and molecular levels
    • Larsson L, Li X, Edstrom L, et al. Acute quadriplegia and loss of muscle myosin in patients treated with nondepolarizing neuromuscular blocking agents and corticosteroids: Mechanisms at the cellular and molecular levels. Crit Care Med 2000;28:34-45
    • (2000) Crit Care Med , vol.28 , pp. 34-45
    • Larsson, L.1    Li, X.2    Edstrom, L.3
  • 54
    • 0036478897 scopus 로고    scopus 로고
    • Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
    • Gerull B, Gramlich M, Atherton J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 2002;30:201-4
    • (2002) Nat Genet , vol.30 , pp. 201-204
    • Gerull, B.1    Gramlich, M.2    Atherton, J.3
  • 55
    • 0036723943 scopus 로고    scopus 로고
    • Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
    • Hackman P, Vihola A, Haravuori H, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 2002;71:492-500
    • (2002) Am J Hum Genet , vol.71 , pp. 492-500
    • Hackman, P.1    Vihola, A.2    Haravuori, H.3
  • 56
    • 0026777275 scopus 로고
    • Limb-girdle type muscular dystrophy in a large family with distal myopathy: Homozygous manifestation of a dominant gene?
    • Udd B. Limb-girdle type muscular dystrophy in a large family with distal myopathy: Homozygous manifestation of a dominant gene? J Med Genet 1992;29:383-89
    • (1992) J Med Genet , vol.29 , pp. 383-389
    • Udd, B.1
  • 57
    • 0028905205 scopus 로고
    • Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
    • Richard I, Broux O, Allamand V, 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
  • 58
    • 0033582745 scopus 로고    scopus 로고
    • Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: From LGMD2A to LGMD2G
    • Passos-Bueno MR, Vainzof M, Moreira ES, Zatz M. Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: From LGMD2A to LGMD2G. Am J Med Genet 1999;82:392-98
    • (1999) Am J Med Genet , vol.82 , pp. 392-398
    • Passos-Bueno, M.R.1    Vainzof, M.2    Moreira, E.S.3    Zatz, M.4
  • 59
    • 0033361883 scopus 로고    scopus 로고
    • Calpainopathy - A survey of mutations and polymorphisms
    • Richard I, Roudaut C, Saenz A, et al. Calpainopathy - a survey of mutations and polymorphisms. Am J Hum Genet 1999;64:1524-40
    • (1999) Am J Hum Genet , vol.64 , pp. 1524-1540
    • Richard, I.1    Roudaut, C.2    Saenz, A.3
  • 60
    • 0031662389 scopus 로고    scopus 로고
    • Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A
    • Anderson LV, Davison K, Moss JA, et al. Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A. Am J Pathol 1998;153:1169-79
    • (1998) Am J Pathol , vol.153 , pp. 1169-1179
    • Anderson, L.V.1    Davison, K.2    Moss, J.A.3
  • 61
    • 17944377419 scopus 로고    scopus 로고
    • Dysferlin protein analysis in limb-girdle muscular dystrophies
    • Vainzof M, Anderson LV, McNally EM, et al. Dysferlin protein analysis in limb-girdle muscular dystrophies. J Mol Neurosci 2001;17:71-80
    • (2001) J Mol Neurosci , vol.17 , pp. 71-80
    • Vainzof, M.1    Anderson, L.V.2    McNally, E.M.3
  • 62
    • 0037211475 scopus 로고    scopus 로고
    • The 105th ENMC sponsored workshop: Pathogenesis in the nonsarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002
    • Bushby KM, Beckmann JS. The 105th ENMC sponsored workshop: Pathogenesis in the nonsarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002. Neuromuscul Disord 2003;13:80-90
    • (2003) Neuromuscul Disord , vol.13 , pp. 80-90
    • Bushby, K.M.1    Beckmann, J.S.2
  • 63
    • 0035836751 scopus 로고    scopus 로고
    • Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene
    • Haravuori H, Vihola A, Straub V, et al. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene. Neurology 2001;56:869-77
    • (2001) Neurology , vol.56 , pp. 869-877
    • Haravuori, H.1    Vihola, A.2    Straub, V.3
  • 64
    • 0742305818 scopus 로고    scopus 로고
    • Myofibrillar myopathy: Clinical, morphologic and genetic studies in 63 patients
    • Selcen D, Ohno K, Engel AG. Myofibrillar myopathy: Clinical, morphologic and genetic studies in 63 patients. Brain 2004;127:439-51
    • (2004) Brain , vol.127 , pp. 439-451
    • Selcen, D.1    Ohno, K.2    Engel, A.G.3
  • 65
    • 0030940131 scopus 로고    scopus 로고
    • Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leukocytes and skin with monoclonal antibodies
    • Manilal S, Sewry CA, Man N, et al. Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leukocytes and skin with monoclonal antibodies. Neuromuscul Disord 1997;7:63-66
    • (1997) Neuromuscul Disord , vol.7 , pp. 63-66
    • Manilal, S.1    Sewry, C.A.2    Man, N.3
  • 66
    • 17644430698 scopus 로고    scopus 로고
    • Oral exfoliative cytology for the noninvasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers
    • Sabatelli P, Squarzoni S, Petrini S, et al. Oral exfoliative cytology for the noninvasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. Neuromuscul Disord 1998;8:67-71
    • (1998) Neuromuscul Disord , vol.8 , pp. 67-71
    • Sabatelli, P.1    Squarzoni, S.2    Petrini, S.3
  • 67
    • 0034864629 scopus 로고    scopus 로고
    • Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
    • Sewry CA, Brown SC, Mercuri E, et al. Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. Neuropathol Appl Neurobiol 2001;27:281-90
    • (2001) Neuropathol Appl Neurobiol , vol.27 , pp. 281-290
    • Sewry, C.A.1    Brown, S.C.2    Mercuri, E.3
  • 68
    • 0034106396 scopus 로고    scopus 로고
    • Diagnostic protein expression in human muscle biopsies
    • Bornemann A, Anderson LV. Diagnostic protein expression in human muscle biopsies. Brain Pathol 2000;10:193-214
    • (2000) Brain Pathol , vol.10 , pp. 193-214
    • Bornemann, A.1    Anderson, L.V.2
  • 69
    • 0029071034 scopus 로고
    • Immunopathogenesis of inflammatory myopathies
    • Dalakas MC. Immunopathogenesis of inflammatory myopathies. Ann Neurol 1995;37(suppl 1):74-86
    • (1995) Ann Neurol , vol.37 , Issue.1 SUPPL. , pp. 74-86
    • Dalakas, M.C.1
  • 70
    • 0031931214 scopus 로고    scopus 로고
    • Unexpected sarcolemmal complement membrane attack complex deposits on nonnecrotic muscle fibers in muscular dystrophies
    • Spuler S, Engel AG. Unexpected sarcolemmal complement membrane attack complex deposits on nonnecrotic muscle fibers in muscular dystrophies. Neurology 1998;50:41-46
    • (1998) Neurology , vol.50 , pp. 41-46
    • Spuler, S.1    Engel, A.G.2
  • 71
    • 0036866049 scopus 로고    scopus 로고
    • Muscle biopsy findings in inflammatory myopathies
    • Dalakas MC. Muscle biopsy findings in inflammatory myopathies. Rheum Dis Clin North Am 2002;28:779-98
    • (2002) Rheum Dis Clin North Am , vol.28 , pp. 779-798
    • Dalakas, M.C.1
  • 72
    • 0023794825 scopus 로고
    • Expression of immunoreactive major histocompatibility complex products in human skeletal muscles
    • Karpati G, Pouliot Y, Carpenter S. Expression of immunoreactive major histocompatibility complex products in human skeletal muscles. Ann Neurol 1988;23:64-72
    • (1988) Ann Neurol , vol.23 , pp. 64-72
    • Karpati, G.1    Pouliot, Y.2    Carpenter, S.3
  • 73
    • 0034041459 scopus 로고    scopus 로고
    • Increased expression of interleukin 1 alpha and MHC class I in muscle tissue of patients with chronic, inactive polymyositis and dermatomyositis
    • Nyberg P, Wikman AL, Nennesmo I, et al. Increased expression of interleukin 1 alpha and MHC class I in muscle tissue of patients with chronic, inactive polymyositis and dermatomyositis. J Rheumatol 2000;27:940-48
    • (2000) J Rheumatol , vol.27 , pp. 940-948
    • Nyberg, P.1    Wikman, A.L.2    Nennesmo, I.3
  • 74
    • 0028105917 scopus 로고
    • Idiopathic inflammatory myopathies: Inclusion-body myositis, polymyositis, and dermatomyositis
    • Askanas V, Engel WK, Mirabella M. Idiopathic inflammatory myopathies: Inclusion-body myositis, polymyositis, and dermatomyositis. Curr Opin Neurol 1994;7:448-56
    • (1994) Curr Opin Neurol , vol.7 , pp. 448-456
    • Askanas, V.1    Engel, W.K.2    Mirabella, M.3
  • 75
    • 0033974913 scopus 로고    scopus 로고
    • Cytochrome oxidase immunohistochemistry: Clues for genetic mechanisms
    • Rahman S, Lake BD, Taanman JW, et al. Cytochrome oxidase immunohistochemistry: Clues for genetic mechanisms. Brain. 2000;123(Pt 3):591-600
    • (2000) Brain , vol.123 , Issue.3 PART , pp. 591-600
    • Rahman, S.1    Lake, B.D.2    Taanman, J.W.3
  • 76
    • 0025219783 scopus 로고
    • Immunohistochemical demonstration of mitochondria in routinely processed tissue using a monoclonal antibody
    • Paulus W, Lehr A, Peiffer J, et al. Immunohistochemical demonstration of mitochondria in routinely processed tissue using a monoclonal antibody. J Pathol 1990;160:321-28
    • (1990) J Pathol , vol.160 , pp. 321-328
    • Paulus, W.1    Lehr, A.2    Peiffer, J.3
  • 77
    • 0023191783 scopus 로고
    • Neural cell adhesion molecule in normal, denervated, and myopathic human muscle
    • Cashman NR, Covault J, Wollman RL, et al. Neural cell adhesion molecule in normal, denervated, and myopathic human muscle. Ann Neurol 1987;21:481-89
    • (1987) Ann Neurol , vol.21 , pp. 481-489
    • Cashman, N.R.1    Covault, J.2    Wollman, R.L.3
  • 78
    • 0036260266 scopus 로고    scopus 로고
    • Expression of fetal type acetylcholine receptor is restricted to type 1 muscle fibers in human neuromuscular disorders
    • Gattenlohner S, Schneider C, Thamer C, et al. Expression of fetal type acetylcholine receptor is restricted to type 1 muscle fibers in human neuromuscular disorders. Brain 2002;125:1309-19
    • (2002) Brain , vol.125 , pp. 1309-1319
    • Gattenlohner, S.1    Schneider, C.2    Thamer, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.