메뉴 건너뛰기




Volumn 6, Issue 4, 1996, Pages 275-281

X-linked myotubular myopathy: Refinement of the critical gene region

Author keywords

Gene localization; Microsatellites; Myotubular myopathy; RFLPs; VNTRs; Xq28

Indexed keywords

DNA MARKER;

EID: 0030221338     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/0960-8966(96)00364-1     Document Type: Article
Times cited : (8)

References (33)
  • 1
    • 0016815327 scopus 로고
    • X-linked myotubular myopathy with fatal neonatal asphyxia
    • 1. Barth P G, Van Wijngaarden G K, Bethlem J. X-linked myotubular myopathy with fatal neonatal asphyxia. Neurology 1975; 25: 531-536.
    • (1975) Neurology , vol.25 , pp. 531-536
    • Barth, P.G.1    Van Wijngaarden, G.K.2    Bethlem, J.3
  • 3
    • 0022870602 scopus 로고
    • Severe neonatal centronuclear (myotubular) myopathy: An X-linked recessive disorder
    • 3. Bucher H U, Boltshauser E, Briner J, Gnehm H E, Janzer R C. Severe neonatal centronuclear (myotubular) myopathy: an X-linked recessive disorder. Helv Paediat Acta 1986; 41: 291-300.
    • (1986) Helv Paediat Acta , vol.41 , pp. 291-300
    • Bucher, H.U.1    Boltshauser, E.2    Briner, J.3    Gnehm, H.E.4    Janzer, R.C.5
  • 6
    • 0025599980 scopus 로고
    • Severe neonatal asphyxia due to X-linked centronuclear myopathy
    • 6. Braga S E, Gerber A, Meier C, et al. Severe neonatal asphyxia due to X-linked centronuclear myopathy. Eur J Pediatr 1990; 150: 132-135.
    • (1990) Eur J Pediatr , vol.150 , pp. 132-135
    • Braga, S.E.1    Gerber, A.2    Meier, C.3
  • 7
    • 0018320143 scopus 로고
    • X-linked recessive congenital muscle fiber hypotrophy with central nuclei: Abnormalities of growth and adenylate cyclase in muscle tissue cultures
    • 7. Askanas V, Engel W , Reddy N. X-linked recessive congenital muscle fiber hypotrophy with central nuclei: abnormalities of growth and adenylate cyclase in muscle tissue cultures. Arch Neurol 1979; 36: 604-609.
    • (1979) Arch Neurol , vol.36 , pp. 604-609
    • Askanas, V.1    Engel, W.2    Reddy, N.3
  • 8
    • 0025279786 scopus 로고
    • Myotubular myopathy: Arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin
    • 8. Sarnat H B. Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Can J Neurol Sci 1990; 17: 109-123.
    • (1990) Can J Neurol Sci , vol.17 , pp. 109-123
    • Sarnat, H.B.1
  • 9
    • 0026744205 scopus 로고
    • Vimentin and desmin in maturing skeletal muscle and developmental myopathies
    • 9. Sarnat H B. Vimentin and desmin in maturing skeletal muscle and developmental myopathies. Neurology 1992; 42: 1616-1624.
    • (1992) Neurology , vol.42 , pp. 1616-1624
    • Sarnat, H.B.1
  • 10
    • 0023263389 scopus 로고
    • X-linked myotubular myopathy: Intrafamilial variability and normal muscle biopsy in a heterozygous female
    • 10. Keppen L D, Husain M, Woody R C. X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female. Clin Genet 1987; 32: 95-99.
    • (1987) Clin Genet , vol.32 , pp. 95-99
    • Keppen, L.D.1    Husain, M.2    Woody, R.C.3
  • 11
    • 0025911043 scopus 로고    scopus 로고
    • Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy
    • 11. Breningstall G N, Grover W D, Marks H G. Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy. Am J Med Genet 1991; 39: 13-18.
    • Am J Med Genet , pp. 13-18
    • Breningstall, G.N.1    Grover, W.D.2    Marks, H.G.3
  • 12
    • 0001528331 scopus 로고
    • X-linkage in myotubular myopathy (XLMTM): Evidence for linkage to Xq28 DNA markers
    • 12. Thomas NST, Sarfarazi M, Roberts K, et al. X-linkage in myotubular myopathy (XLMTM): evidence for linkage to Xq28 DNA markers. Cytogenet Cell Genet 1987; 46: 314.
    • (1987) Cytogenet Cell Genet , vol.46 , pp. 314
    • Thomas, N.S.T.1    Sarfarazi, M.2    Roberts, K.3
  • 13
    • 0025273771 scopus 로고
    • X-linked myotubular myopathy: A linkage study
    • 13. Darnfors C, Larsson B, Oldfors A, et al. X-linked myotubular myopathy: a linkage study. Clin Genet 1990; 37: 335-340.
    • (1990) Clin Genet , vol.37 , pp. 335-340
    • Darnfors, C.1    Larsson, B.2    Oldfors, A.3
  • 14
    • 0025294930 scopus 로고
    • X-linked neonatal myotubular myopathy: One recombination detected with four polymorphic DNA markers from xq28
    • 14. Lehesjoki A E, Sankila E M, Miao J, et al. X-linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28. J Med Genet 1990; 27: 288-291.
    • (1990) J Med Genet , vol.27 , pp. 288-291
    • Lehesjoki, A.E.1    Sankila, E.M.2    Miao, J.3
  • 15
    • 0025297247 scopus 로고
    • A linkage study of a large pedigree with X-linked centronuclear myopathy
    • 15. Starr J, Lamont M, Iselius L, Harvey J, Heckmatt J. A linkage study of a large pedigree with X-linked centronuclear myopathy. J Med Genet 1990; 27: 281-283.
    • (1990) J Med Genet , vol.27 , pp. 281-283
    • Starr, J.1    Lamont, M.2    Iselius, L.3    Harvey, J.4    Heckmatt, J.5
  • 16
    • 0025300478 scopus 로고
    • X-linked neonatal centronuclear/myotubular myopathy: Evidence for linkage to Xq28 DNA marker loci
    • 16. Thomas NST, Williams H, Cole G, et al. X-linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. J Med Genet 1990; 27: 284-287.
    • (1990) J Med Genet , vol.27 , pp. 284-287
    • Thomas, N.S.T.1    Williams, H.2    Cole, G.3
  • 17
    • 0026339262 scopus 로고
    • X-linked centronuclear myopathy: Mapping the gene to Xq28
    • 17. Liechti-Gallati S, Müller B, Grimm T, et al. X-linked centronuclear myopathy: mapping the gene to Xq28. Neuromusc Disord 1991; 1: 239-245.
    • (1991) Neuromusc Disord , vol.1 , pp. 239-245
    • Liechti-Gallati, S.1    Müller, B.2    Grimm, T.3
  • 18
    • 0028137765 scopus 로고
    • Report on the 20th ENMC sponsored international workshop: Myotubular/centronuclear myopathy
    • 18. Wallgren-Pettersson C, Thomas N S T. Report on the 20th ENMC sponsored international workshop: Myotubular/centronuclear myopathy. Neuromusc Disord 1994; 4: 71-74.
    • (1994) Neuromusc Disord , vol.4 , pp. 71-74
    • Wallgren-Pettersson, C.1    Thomas, N.S.T.2
  • 19
    • 0028606338 scopus 로고
    • X-linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)
    • 19. Dahl N, Samson F, Thomas N S T, et al. X-linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684). J Med Genet 1994; 31: 922-924.
    • (1994) J Med Genet , vol.31 , pp. 922-924
    • Dahl, N.1    Samson, F.2    Thomas, N.S.T.3
  • 20
    • 0028969635 scopus 로고
    • Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region
    • 20. Dahl N, Hu L J, Chery M, et al. Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region. Am J Human Genet 1995; 56: 1108-1115.
    • (1995) Am J Human Genet , vol.56 , pp. 1108-1115
    • Dahl, N.1    Hu, L.J.2    Chery, M.3
  • 21
    • 1842353216 scopus 로고
    • Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
    • 21. Kunkel L M, Smith K D, Boyer S H, et al. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 1977; 74: 1245-1249.
    • (1977) Proc Natl Acad Sci USA , vol.74 , pp. 1245-1249
    • Kunkel, L.M.1    Smith, K.D.2    Boyer, S.H.3
  • 23
    • 0024420550 scopus 로고
    • Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS304)
    • 23. Dahl N, Goonewardena P, Malmgren H, et al. Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS304). Am J Human Genet 1989; 45: 304-309.
    • (1989) Am J Human Genet , vol.45 , pp. 304-309
    • Dahl, N.1    Goonewardena, P.2    Malmgren, H.3
  • 24
    • 0011838019 scopus 로고
    • Further isolation, characterisation and physical localization of X chromosome RFLP markers, comparing VNTR directed and random isolation strategies
    • 24. Barker D F, Dietz-Band J N, Donaldson C W, et al. Further isolation, characterisation and physical localization of X chromosome RFLP markers, comparing VNTR directed and random isolation strategies. Cytogenet Cell Genet 1989; 51: 958.
    • (1989) Cytogenet Cell Genet , vol.51 , pp. 958
    • Barker, D.F.1    Dietz-Band, J.N.2    Donaldson, C.W.3
  • 25
    • 0026571810 scopus 로고
    • Isolation and characterisation of a highly polymorphic human locus (DXS455) in proximal Xq28
    • 25. Consalez G, Stayton C, Freimer N, et al. Isolation and characterisation of a highly polymorphic human locus (DXS455) in proximal Xq28. Genomics 1992; 12: 710-714.
    • (1992) Genomics , vol.12 , pp. 710-714
    • Consalez, G.1    Stayton, C.2    Freimer, N.3
  • 26
    • 0024505923 scopus 로고
    • A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome
    • 26. Vincent A, Kretz C, Oberlé I, Mandel J L. A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome. Human Genet 1989; 82: 85-86.
    • (1989) Human Genet , vol.82 , pp. 85-86
    • Vincent, A.1    Kretz, C.2    Oberlé, I.3    Mandel, J.L.4
  • 28
    • 0011852954 scopus 로고
    • New clinical observations in X-linked myotubular myopathy
    • September 1
    • 28. Joseph M, Pai G S, Holden K, Herman G. New clinical observations in X-linked myotubular myopathy. Am J Med Genet 1994; September 1, H4: 396.
    • (1994) Am J Med Genet , vol.H4 , pp. 396
    • Joseph, M.1    Pai, G.S.2    Holden, K.3    Herman, G.4
  • 29
    • 0027936475 scopus 로고
    • Report of the fifth international workshop on human X chromosome mapping 1994
    • 29. Poustka A, Schlessinger D. Report of the fifth international workshop on human X chromosome mapping 1994. Cytogenet Cell Genet 1994; 67: 295-358.
    • (1994) Cytogenet Cell Genet , vol.67 , pp. 295-358
    • Poustka, A.1    Schlessinger, D.2
  • 30
    • 0028061372 scopus 로고
    • The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28
    • 30. Janssen E A, Hensels G W, van Oost B A, et al. The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28. Neuromusc Disord 1994; 4: 455-461.
    • (1994) Neuromusc Disord , vol.4 , pp. 455-461
    • Janssen, E.A.1    Hensels, G.W.2    Van Oost, B.A.3
  • 31
    • 0011804091 scopus 로고
    • Human gene mapping 11: Report of the committee on the genetic constitution of the X chromosome
    • 31. Davies K E, Mandel J L, Monaco A P, Nussbaum R L, Willard H F. Human gene mapping 11: Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet 1991; 58: 861
    • (1991) Cytogenet Cell Genet , vol.58 , pp. 861
    • Davies, K.E.1    Mandel, J.L.2    Monaco, A.P.3    Nussbaum, R.L.4    Willard, H.F.5
  • 33
    • 84968526917 scopus 로고
    • Interstitial deletion at Xq27-q28 in a girl with X-linked centronuclear myopathy
    • 33. Dahl N, Hu L, Chery M, et al. Interstitial deletion at Xq27-q28 in a girl with X-linked centronuclear myopathy. Cytogenet Cell Genet 1993; 64: 181.
    • (1993) Cytogenet Cell Genet , vol.64 , pp. 181
    • Dahl, N.1    Hu, L.2    Chery, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.