메뉴 건너뛰기




Volumn 66, Issue 2, 2000, Pages 428-435

Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; LAMININ; MEROSIN;

EID: 0033911803     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302775     Document Type: Article
Times cited : (76)

References (33)
  • 2
    • 0028914964 scopus 로고
    • Three muscular dystrophies: Loss of cytoskeletal-extracellular matrix linkage
    • Campbell KP (1995) Three muscular dystrophies: loss of cytoskeletal-extracellular matrix linkage. Cell 80:675-679
    • (1995) Cell , vol.80 , pp. 675-679
    • Campbell, K.P.1
  • 3
    • 0031594943 scopus 로고    scopus 로고
    • Laminin α2 chain-deficient congenital muscular dystrophy: Variable epitope expression in severe and mild cases
    • Cohn RD, Herrmann R, Sorkin L, Wever U, Voit T (1998) Laminin α2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases. Neurology 51:94-100
    • (1998) Neurology , vol.51 , pp. 94-100
    • Cohn, R.D.1    Herrmann, R.2    Sorkin, L.3    Wever, U.4    Voit, T.5
  • 12
    • 0029586082 scopus 로고
    • Readjusting the localization of merosin (laminin α2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2
    • Helbling-Leclerc A, Topaloglu H, Tomé FMS, Sewry C, Gyapay G, Naom I, Muntoni F, et al (1995a) Readjusting the localization of merosin (laminin α2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2. C R Acad Sci III 318:1245-1252
    • (1995) C R Acad Sci III , vol.318 , pp. 1245-1252
    • Helbling-Leclerc, A.1    Topaloglu, H.2    Tomé, F.M.S.3    Sewry, C.4    Gyapay, G.5    Naom, I.6    Muntoni, F.7
  • 14
    • 0029806196 scopus 로고    scopus 로고
    • Congenital muscular dystrophy with laminin α2 chain deficiency: Identification of a new intermediate phenotype and correlation of clinical findings to muscle immunochemistry
    • Hermann R, Straub V, Meyer K, Kahn T, Wagner M, Voit T (1996) Congenital muscular dystrophy with laminin α2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunochemistry. Eur J Pediatr 155:968-976
    • (1996) Eur J Pediatr , vol.155 , pp. 968-976
    • Hermann, R.1    Straub, V.2    Meyer, K.3    Kahn, T.4    Wagner, M.5    Voit, T.6
  • 16
    • 0345196592 scopus 로고    scopus 로고
    • Bethlem myopathy: A slowly progressive congenital muscular dystrophy with contractures
    • Jobsis GJ, Boers JM, Barth PG, de Visser M (1999) Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain 122:649-655
    • (1999) Brain , vol.122 , pp. 649-655
    • Jobsis, G.J.1    Boers, J.M.2    Barth, P.G.3    De Visser, M.4
  • 19
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509-517
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 20
    • 0032901402 scopus 로고    scopus 로고
    • Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy
    • Manilal S, Sewry CA, Pereboev A, Man N, Gobbi P, Hawkes S, Love DR, et al (1999) Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. Hum Mol Genet 8:353-359
    • (1999) Hum Mol Genet , vol.8 , pp. 353-359
    • Manilal, S.1    Sewry, C.A.2    Pereboev, A.3    Man, N.4    Gobbi, P.5    Hawkes, S.6    Love, D.R.7
  • 21
    • 17344366176 scopus 로고    scopus 로고
    • Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36
    • Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry CA, Mayer M, et al (1998) Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. Am J Hum Genet 62:1439-1445
    • (1998) Am J Hum Genet , vol.62 , pp. 1439-1445
    • Moghadaszadeh, B.1    Desguerre, I.2    Topaloglu, H.3    Muntoni, F.4    Pavek, S.5    Sewry, C.A.6    Mayer, M.7
  • 22
    • 0030273796 scopus 로고    scopus 로고
    • Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities
    • Mora M, Moroni I, Uziel G, di Blasi C, Barresi R, Farina L, Morandi L (1996) Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities. Neuromuscul Disord 5: 377-381
    • (1996) Neuromuscul Disord , vol.5 , pp. 377-381
    • Mora, M.1    Moroni, I.2    Uziel, G.3    Di Blasi, C.4    Barresi, R.5    Farina, L.6    Morandi, L.7
  • 23
    • 0031814515 scopus 로고    scopus 로고
    • Congenital muscular dystrophy: From rags to riches
    • Muntoni F, Sewry CA (1998a) Congenital muscular dystrophy: from rags to riches. Neurology 51:14-16
    • (1998) Neurology , vol.51 , pp. 14-16
    • Muntoni, F.1    Sewry, C.A.2
  • 24
    • 0031980441 scopus 로고    scopus 로고
    • An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary α2 laminin deficiency unlinked to the LAMA2 locus on 6q22
    • Muntoni F, Taylor J, Sewry CA, Naom I, Dubowitz V (1998b) An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary α2 laminin deficiency unlinked to the LAMA2 locus on 6q22. Eur J Paediatr Neurol 1:19-26
    • (1998) Eur J Paediatr Neurol , vol.1 , pp. 19-26
    • Muntoni, F.1    Taylor, J.2    Sewry, C.A.3    Naom, I.4    Dubowitz, V.5
  • 25
    • 0033966862 scopus 로고    scopus 로고
    • Mutations in the laminin α2-chain gene in two children with early-onset muscular dystrophy
    • Naom I, D'Alessandro M, Sewry CA, Jardine P, Ferlini A, Moss T, Dubowitz V, et al (2000) Mutations in the laminin α2-chain gene in two children with early-onset muscular dystrophy. Brain 123:31-41
    • (2000) Brain , vol.123 , pp. 31-41
    • Naom, I.1    D'Alessandro, M.2    Sewry, C.A.3    Jardine, P.4    Ferlini, A.5    Moss, T.6    Dubowitz, V.7
  • 27
    • 0030614661 scopus 로고    scopus 로고
    • Refinement of the laminin α2 chain locus to human chromosome 6q2 in severe and mild merosin-deficient congenital muscular dystrophy
    • Naom IS, D'Alessandro M, Topaloglu H, Sewry C, Ferlini A, Helbling-Leclerc A, Guicheney P, et al (1997) Refinement of the laminin α2 chain locus to human chromosome 6q2 in severe and mild merosin-deficient congenital muscular dystrophy. J Med Genet 34:99-104
    • (1997) J Med Genet , vol.34 , pp. 99-104
    • Naom, I.S.1    D'Alessandro, M.2    Topaloglu, H.3    Sewry, C.4    Ferlini, A.5    Helbling-Leclerc, A.6    Guicheney, P.7
  • 29
    • 7144255542 scopus 로고    scopus 로고
    • Missense mutation in a von Willebrand factor type A domain of the alpha 3 (VI) collagen gene (COL6A3) in a family with Bethlem myopathy
    • Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, et al (1998) Missense mutation in a von Willebrand factor type A domain of the alpha 3 (VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Hum Mol Genet 7:807-812
    • (1998) Hum Mol Genet , vol.7 , pp. 807-812
    • Pan, T.C.1    Zhang, R.Z.2    Pericak-Vance, M.A.3    Tandan, R.4    Fries, T.5    Stajich, J.M.6    Viles, K.7
  • 30
    • 0030918601 scopus 로고    scopus 로고
    • Variable phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin α2 chain
    • Sewry CA, Naom I, D'Alessandro M, Sorokin L, Bruno S, Wilson LA, Dubowitz V, et al (1997) Variable phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin α2 chain. Neuromuscul Disord 7:169-175
    • (1997) Neuromuscul Disord , vol.7 , pp. 169-175
    • Sewry, C.A.1    Naom, I.2    D'Alessandro, M.3    Sorokin, L.4    Bruno, S.5    Wilson, L.A.6    Dubowitz, V.7
  • 32
    • 0027364850 scopus 로고
    • Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33
    • Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, et al (1993) Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet 5:283-286
    • (1993) Nat Genet , vol.5 , pp. 283-286
    • Toda, T.1    Segawa, M.2    Nomura, Y.3    Nonaka, I.4    Masuda, K.5    Ishihara, T.6    Sakai, M.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.