메뉴 건너뛰기




Volumn 78, Issue 4, 1998, Pages 361-365

Paternal inheritance or different mutations in maternally related patients occur in about 3% of duchenne familial cases

Author keywords

Different mutations in related patients; Duchenne dystrophy; Paternal inheritance; Transposable elements

Indexed keywords

CREATINE KINASE; DNA; DYSTROPHIN;

EID: 0031928771     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980724)78:4<361::AID-AJMG11>3.0.CO;2-G     Document Type: Article
Times cited : (11)

References (31)
  • 6
    • 0023957073 scopus 로고
    • Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies
    • Forrest SM, Cross GS, Flint T, Speer A, Robson KJH, Davies KE (1988): Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics 2:109-114.
    • (1988) Genomics , vol.2 , pp. 109-114
    • Forrest, S.M.1    Cross, G.S.2    Flint, T.3    Speer, A.4    Robson, K.J.H.5    Davies, K.E.6
  • 7
    • 0025320994 scopus 로고
    • Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin and phenotype/genotype correlations
    • Hu X, Ray PN, Murphy EG, Thompson MW, Worton RG (1990): Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin and phenotype/genotype correlations. Am J Hum Genet 46:682-695.
    • (1990) Am J Hum Genet , vol.46 , pp. 682-695
    • Hu, X.1    Ray, P.N.2    Murphy, E.G.3    Thompson, M.W.4    Worton, R.G.5
  • 8
    • 85088548979 scopus 로고
    • Familial occurence of Duchenne muscular dystrophy through paternal lines in four families
    • Hunter S (1992): Familial occurence of Duchenne muscular dystrophy through paternal lines in four families. Am J Med Genet 42:213.
    • (1992) Am J Med Genet , vol.42 , pp. 213
    • Hunter, S.1
  • 9
    • 0023867459 scopus 로고
    • Hemophilia a resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man
    • Kazazian HH, Wong C, Youssoufian H, Scott AF, Philips DG, Antonarakis SE (1988): Hemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature 332:164-166.
    • (1988) Nature , vol.332 , pp. 164-166
    • Kazazian, H.H.1    Wong, C.2    Youssoufian, H.3    Scott, A.F.4    Philips, D.G.5    Antonarakis, S.E.6
  • 10
    • 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, Hoffmann EP, Bertelson CJ, Monaco AP, Feener CA, 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    Hoffmann, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.A.5    Kunkel, L.M.6
  • 12
    • 0031105604 scopus 로고    scopus 로고
    • The evolution of an intron: Analysis of a long deletion-prone intron in the human dystrophin gene
    • McNaughton JC, Hughes G, Jones WA, Stocwell PA, Klamut HJ, Petersen GB (1997): The evolution of an intron: Analysis of a long deletion-prone intron in the human dystrophin gene. Genomics 40:294-304.
    • (1997) Genomics , vol.40 , pp. 294-304
    • McNaughton, J.C.1    Hughes, G.2    Jones, W.A.3    Stocwell, P.A.4    Klamut, H.J.5    Petersen, G.B.6
  • 13
    • 0026545454 scopus 로고
    • Multiple mutations in an extended Duchenne muscular dystrophy family
    • Miciak A, Keen A, Jadayel D, Bundey S (1992): Multiple mutations in an extended Duchenne muscular dystrophy family. J Med Genet 29:123-126.
    • (1992) J Med Genet , vol.29 , pp. 123-126
    • Miciak, A.1    Keen, A.2    Jadayel, D.3    Bundey, S.4
  • 14
    • 0027258342 scopus 로고
    • Insertion of a 5′ truncated L1 element into the 3′end of exon 44 of the dystrophin gene resulted in skipping of the exon splicing in a case of Duchenne muscular dystrophy
    • Narita N, Nishio H, Kitoh Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M (1993): Insertion of a 5′ truncated L1 element into the 3′end of exon 44 of the dystrophin gene resulted in skipping of the exon splicing in a case of Duchenne muscular dystrophy. J Clin Invest 91:1862-1867.
    • (1993) J Clin Invest , vol.91 , pp. 1862-1867
    • Narita, N.1    Nishio, H.2    Kitoh, Y.3    Ishikawa, Y.4    Minami, R.5    Nakamura, H.6    Matsuo, M.7
  • 17
    • 0025012437 scopus 로고
    • Estimate of germinal mosaicism in Duchenne muscular dystrophy
    • Passos-Bueno MR, Lima MABO, Zatz M (1990b): Estimate of germinal mosaicism in Duchenne muscular dystrophy. J Med Genet 27:727-728.
    • (1990) J Med Genet , vol.27 , pp. 727-728
    • Passos-Bueno, M.R.1    Mabo, L.2    Zatz, M.3
  • 19
    • 0026729311 scopus 로고
    • A transposon-like element in the deletion-prone region of the dystrophin gene
    • Pizzuti A, Pieretti M, Fenwick RG, Gibbs RA, Caskey TC (1992): A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics 13:594-600.
    • (1992) Genomics , vol.13 , pp. 594-600
    • Pizzuti, A.1    Pieretti, M.2    Fenwick, R.G.3    Gibbs, R.A.4    Caskey, T.C.5
  • 20
    • 0029962292 scopus 로고    scopus 로고
    • A recombination hotspot responsible for two inherited peripheral neuropathies is located near a transposon-like element
    • Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR (1996): A recombination hotspot responsible for two inherited peripheral neuropathies is located near a transposon-like element. Nat Genet 12:288-297.
    • (1996) Nat Genet , vol.12 , pp. 288-297
    • Reiter, L.T.1    Murakami, T.2    Koeuth, T.3    Pentao, L.4    Muzny, D.M.5    Gibbs, R.A.6    Lupski, J.R.7
  • 23
    • 0027119439 scopus 로고
    • Duchenne muscular dystrophy inherited through paternal lines
    • ten Kate LP, van Essen AJ (1992): Duchenne muscular dystrophy inherited through paternal lines. Am J Med Genet 42:214.
    • (1992) Am J Med Genet , vol.42 , pp. 214
    • Ten Kate, L.P.1    Van Essen, A.J.2
  • 24
    • 33749710934 scopus 로고
    • Some problems in genetics of muscular dystrophy
    • Thompson MW, Ludvigsen B, Monckton G (1962): Some problems in genetics of muscular dystrophy. Rev Can Biol 21:543-550.
    • (1962) Rev Can Biol , vol.21 , pp. 543-550
    • Thompson, M.W.1    Ludvigsen, B.2    Monckton, G.3
  • 26
    • 0025979087 scopus 로고
    • Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxi-terminal and the amino-terminal region of the protein
    • Vainzof M, Zubrzycka-Gaarn EE, Rapaport D, Passos-Bueno MR, Pavanello RCM, Pavanello I, Zatz M (1991): Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxi-terminal and the amino-terminal region of the protein. J Neurol Sci 101:141-147.
    • (1991) J Neurol Sci , vol.101 , pp. 141-147
    • Vainzof, M.1    Zubrzycka-Gaarn, E.E.2    Rapaport, D.3    Passos-Bueno, M.R.4    Rcm, P.5    Pavanello, I.6    Zatz, M.7
  • 27
    • 0027278997 scopus 로고
    • Two distinct mutations in a single dystrophin gene: Identification of an altered splice-site as the primary Becker muscular dystrophy mutation
    • Wilton SD, Johnsen RD, Pedretti JR, Laing NG (1993): Two distinct mutations in a single dystrophin gene: Identification of an altered splice-site as the primary Becker muscular dystrophy mutation. Am J Med Genet 46:563-569.
    • (1993) Am J Med Genet , vol.46 , pp. 563-569
    • Wilton, S.D.1    Johnsen, R.D.2    Pedretti, J.R.3    Laing, N.G.4
  • 28
    • 0017136645 scopus 로고
    • Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: A Brazilian study
    • Zatz M, Frota-Pessoa O, Levy JA, Peres CA (1976): Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: A Brazilian study. J Genet Hum 24:153-168.
    • (1976) J Genet Hum , vol.24 , pp. 153-168
    • Zatz, M.1    Frota-Pessoa, O.2    Levy, J.A.3    Peres, C.A.4
  • 29
    • 0017765056 scopus 로고
    • Frequency of Duchenne muscular dystrophy carriers
    • Zatz M, Lange M, Spence MA (1977): Frequency of Duchenne muscular dystrophy carriers. Lancet 1:759.
    • (1977) Lancet , vol.1 , pp. 759
    • Zatz, M.1    Lange, M.2    Spence, M.A.3
  • 30
    • 0025977030 scopus 로고
    • Familial occurence of Duchenne dystrophy through paternal lines in four families
    • Zatz M, Passos-Bueno MR, Rapaport D, Vainzof M (1991): Familial occurence of Duchenne dystrophy through paternal lines in four families. Am J Med Genet 38:80-84.
    • (1991) Am J Med Genet , vol.38 , pp. 80-84
    • Zatz, M.1    Passos-Bueno, M.R.2    Rapaport, D.3    Vainzof, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.