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Volumn 155, Issue 11, 1996, Pages 968-976

Congenital muscular dystrophy with laminin α2 chain deficiency: Identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry

Author keywords

Congenital muscular dystrophy; Extracellular matrix; Laminin; MRI

Indexed keywords

LAMININ;

EID: 0029806196     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02282889     Document Type: Article
Times cited : (72)

References (31)
  • 1
    • 85008070304 scopus 로고
    • Laminin in animal models for muscular dystrophy: Detect of laminin M in skeletal and cardiac muscles and peripheral nerve of the homozygous dystrophic dy/dy mice
    • Arahata K, Hayashi YK, Koga R et al. (1993) Laminin in animal models for muscular dystrophy: detect of laminin M in skeletal and cardiac muscles and peripheral nerve of the homozygous dystrophic dy/dy mice. Proc Jpn Acad 69: 259-264
    • (1993) Proc Jpn Acad , vol.69 , pp. 259-264
    • Arahata, K.1    Hayashi, Y.K.2    Koga, R.3
  • 3
    • 0027275643 scopus 로고
    • A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
    • Camphell KP, Ervasti JM (1993) A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 122: 809-823
    • (1993) J Cell Biol , vol.122 , pp. 809-823
    • Camphell, K.P.1    Ervasti, J.M.2
  • 4
    • 0027954337 scopus 로고
    • Workshop report on 22nd ENMC sponsored meeting on congential muscular dystrophy held in Baarn, the Netherlands, May 14-16 1993
    • Dubowitz V (1994) Workshop report on 22nd ENMC sponsored meeting on congential muscular dystrophy held in Baarn, The Netherlands, May 14-16 1993. Neuromusc Disord 4: 75-81
    • (1994) Neuromusc Disord , vol.4 , pp. 75-81
    • Dubowitz, V.1
  • 6
    • 0027222921 scopus 로고
    • Luminin variants: Why, where and when?
    • Engvall E (1993) Luminin variants: why, where and when? Kidney Int 43: 2-6
    • (1993) Kidney Int , vol.43 , pp. 2-6
    • Engvall, E.1
  • 7
    • 0023970247 scopus 로고
    • Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast is expressed late in nerve and muscle development
    • Engvall E, Leivo I (1988) Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast is expressed late in nerve and muscle development. Proc Natl Acad Sci USA 85: 1544-1548
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 1544-1548
    • Engvall, E.1    Leivo, I.2
  • 8
    • 0026512402 scopus 로고
    • Merosin promotes cell attachement and neurite outgrowth and is a component of the neuritc-promoting factor of RN22 Schwannoma cells
    • Engvall E, Earwicker D, Day A, Muir D, Manthorpe M, Paulsson M (1992) Merosin promotes cell attachement and neurite outgrowth and is a component of the neuritc-promoting factor of RN22 Schwannoma cells. Exp Cell Res 198: 115-123
    • (1992) Exp Cell Res , vol.198 , pp. 115-123
    • Engvall, E.1    Earwicker, D.2    Day, A.3    Muir, D.4    Manthorpe, M.5    Paulsson, M.6
  • 9
    • 0029060893 scopus 로고
    • Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy 22-24 April 1994, the Netherlands
    • Fardeau M, Dubowitz V (1995) Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy 22-24 April 1994, The Netherlands. Neuromusc Disord 5: 253-258
    • (1995) Neuromusc Disord , vol.5 , pp. 253-258
    • Fardeau, M.1    Dubowitz, V.2
  • 10
    • 0023376198 scopus 로고
    • Two distinct cell-binding domains in laminin can independently promote nonneuronal cell adhesion and spreading
    • Goodman SL, Deutzmann R. Mark K von der (1987) Two distinct cell-binding domains in laminin can independently promote nonneuronal cell adhesion and spreading. J Cell Biol 105: 589-598
    • (1987) J Cell Biol , vol.105 , pp. 589-598
    • Goodman, S.L.1    Deutzmann, R.2    Von Der Mark, K.3
  • 11
    • 0027360897 scopus 로고
    • Abnormal localization of laminin subunits in muscular dystrophies
    • Hayushi YK. Engvall E, Arikawa-Hirasawa E et al. (1993) Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci 119: 53-64
    • (1993) J Neurol Sci , vol.119 , pp. 53-64
    • Hayushi, Y.K.1    Engvall, E.2    Arikawa-Hirasawa, E.3
  • 12
    • 0029102340 scopus 로고
    • Deficiency of laminin α2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy
    • Hayashi YK, Koga R, Tsukahara T et al. (1995) Deficiency of laminin α2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy. Muscle Nerve 18: 1027-1030
    • (1995) Muscle Nerve , vol.18 , pp. 1027-1030
    • Hayashi, Y.K.1    Koga, R.2    Tsukahara, T.3
  • 13
    • 0028980027 scopus 로고
    • Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
    • Helbling-Leclerc A, Zhang X, Topaloglu H et al. (1995) Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 11 : 216-218
    • (1995) Nat Genet , vol.11 , pp. 216-218
    • Helbling-Leclerc, A.1    Zhang, X.2    Topaloglu, H.3
  • 14
    • 0028094441 scopus 로고
    • Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
    • Hillaire D, Leclerc A, Fauré S et al. (1994) Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 3: 1657-1661
    • (1994) Hum Mol Genet , vol.3 , pp. 1657-1661
    • Hillaire, D.1    Leclerc, A.2    Fauré, S.3
  • 15
    • 0027244308 scopus 로고
    • Deficiency of dystrophin-associated proteins: A common mechanism leading to muscle cell necrosis in severe childhood muscular dystrophies
    • Matsumura K, Campbell KP (1993) Deficiency of dystrophin-associated proteins: a common mechanism leading to muscle cell necrosis in severe childhood muscular dystrophies. Neuromusc Disord 2: 109-118
    • (1993) Neuromusc Disord , vol.2 , pp. 109-118
    • Matsumura, K.1    Campbell, K.P.2
  • 17
    • 0003056677 scopus 로고
    • Laminin and collagen IV variants and heterogeneity in basement membrane composition
    • Timpl R, Rohrbach DH (eds) Academic Press, San Diego
    • Paulsson, M (1993) Laminin and collagen IV variants and heterogeneity in basement membrane composition. In: Timpl R, Rohrbach DH (eds) Molecular and cellular aspects of basement membranes. Academic Press, San Diego, pp 177-187
    • (1993) Molecular and Cellular Aspects of Basement Membranes , pp. 177-187
    • Paulsson, M.1
  • 18
    • 0029034583 scopus 로고
    • Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy
    • Philpot J, Topaloglu H, Pennock J, Dubowitz V (1995) Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy. Neuromusc Disord 5: 227-231
    • (1995) Neuromusc Disord , vol.5 , pp. 227-231
    • Philpot, J.1    Topaloglu, H.2    Pennock, J.3    Dubowitz, V.4
  • 19
    • 0029061267 scopus 로고
    • Clinical phenotype in congenital muscular dystrophy: Correlation with expression of merosin in skeletal muscle
    • Philpot J, Sewry C, Pennock J, Dubowitz (1995) Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromusc Disord 5: 301-306
    • (1995) Neuromusc Disord , vol.5 , pp. 301-306
    • Philpot, J.1    Sewry, C.2    Pennock, J.3    Dubowitz4
  • 21
    • 0029124239 scopus 로고
    • Expression of laminin subunits in human fetal skeletal muscle
    • Sewry CA, Chevallay M, Tomé FMS (1995) Expression of laminin subunits in human fetal skeletal muscle. Histochem J 27: 497-504
    • (1995) Histochem J , vol.27 , pp. 497-504
    • Sewry, C.A.1    Chevallay, M.2    Tomé, F.M.S.3
  • 22
    • 0026453372 scopus 로고
    • Direct visuali/ation of the dystrophin network on skeletal muscle fiber membrane
    • Straub V, Bittner, RE, Leger, JJ, Voit, T (1992) Direct visuali/ation of the dystrophin network on skeletal muscle fiber membrane. J Cell Biol 119: 1183-1191
    • (1992) J Cell Biol , vol.119 , pp. 1183-1191
    • Straub, V.1    Bittner, R.E.2    Leger, J.J.3    Voit, T.4
  • 23
    • 0028318185 scopus 로고
    • Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus
    • Sunada Y, Bernier SM, Kozak CA, Yamada Y, Campbell KP (1994) Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus. J Biol Chem 269: 13729-13732
    • (1994) J Biol Chem , vol.269 , pp. 13729-13732
    • Sunada, Y.1    Bernier, S.M.2    Kozak, C.A.3    Yamada, Y.4    Campbell, K.P.5
  • 24
    • 0023503414 scopus 로고
    • Laminin and other basement membrane components
    • Timpl R, Martin GR (1987) Laminin and other basement membrane components. Ann Rev Cell Biol 3: 57-85
    • (1987) Ann Rev Cell Biol , vol.3 , pp. 57-85
    • Timpl, R.1    Martin, G.R.2
  • 25
    • 0028232215 scopus 로고
    • Congenital muscular dystrophy with merosin deficiency
    • Tomé FMS, Evangelista T, Leclerc A et al. (1994) Congenital muscular dystrophy with merosin deficiency. CR Acad Sci Paris 317: 351-357
    • (1994) CR Acad Sci Paris , vol.317 , pp. 351-357
    • Tomé, F.M.S.1    Evangelista, T.2    Leclerc, A.3
  • 27
    • 0028584463 scopus 로고
    • Prenatal detection of merosin expression in human placenta
    • Voit T, Fardeau M, Tomé FMS (1994) Prenatal detection of merosin expression in human placenta. Neuropediatrics 25: 332-333
    • (1994) Neuropediatrics , vol.25 , pp. 332-333
    • Voit, T.1    Fardeau, M.2    Tomé, F.M.S.3
  • 28
    • 0029055267 scopus 로고
    • Preserved merosin M-chain (or laminin-α2) expression in skeletal muscle distinguishes Walker-Warburg Syndrome from Fukuyama Muscular Dystrophy and merosin-deficient Congenital Muscular Dystrophy
    • Voit T, Sewry CA, Meyer K et al. (1995) Preserved merosin M-chain (or laminin-α2) expression in skeletal muscle distinguishes Walker-Warburg Syndrome from Fukuyama Muscular Dystrophy and merosin-deficient Congenital Muscular Dystrophy. Neuropediatrics 26: 148-155
    • (1995) Neuropediatrics , vol.26 , pp. 148-155
    • Voit, T.1    Sewry, C.A.2    Meyer, K.3
  • 29
    • 0028066764 scopus 로고
    • Human laminin M chain (merosin): Complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues
    • Vuolteenaho R, Nissinen M, Sainio K et al. (1994) Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. J Cell Biol 124: 381-394
    • (1994) J Cell Biol , vol.124 , pp. 381-394
    • Vuolteenaho, R.1    Nissinen, M.2    Sainio, K.3
  • 30
    • 0028334735 scopus 로고
    • Defective muscle basement membrane and lack of Mlaminin in the dystrophic dy/dy mouse
    • Xu H, Christmas P, Wu XR, Wewer LJM, Engvall E (1994) Defective muscle basement membrane and lack of Mlaminin in the dystrophic dy/dy mouse. Proc Natl Acad Sci USA 91: 5572-5576
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 5572-5576
    • Xu, H.1    Christmas, P.2    Wu, X.R.3    Wewer, L.J.M.4    Engvall, E.5
  • 31
    • 0028135436 scopus 로고
    • Murine muscular dystrophy caused by a mutation in the laminin α2 (Lama2) gene
    • Xu H, Wu XR, Wewer UM, Engvall E (1994) Murine muscular dystrophy caused by a mutation in the laminin α2 (Lama2) gene. Nat Genet 8: 297-302
    • (1994) Nat Genet , vol.8 , pp. 297-302
    • Xu, H.1    Wu, X.R.2    Wewer, U.M.3    Engvall, E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.