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Volumn 268, Issue 1-2, 2008, Pages 179-182

Paternal inheritance or a de novo mutation in a Duchenne Muscular Dystrophy pedigree from South India

Author keywords

Deletion; Duchenne muscular dystrophy; Microsatellite

Indexed keywords

DYSTROPHIN;

EID: 40749126449     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2007.10.025     Document Type: Article
Times cited : (4)

References (13)
  • 1
    • 0002668110 scopus 로고
    • Duchenne dystrophy
    • Engel A.G., and Banker B.Q. (Eds), McGraw-Hill, New York
    • Engel A.G. Duchenne dystrophy. In: Engel A.G., and Banker B.Q. (Eds). Myology: basic and clinical vol 2 (1986), McGraw-Hill, New York 1185-1240
    • (1986) Myology: basic and clinical , vol.2 , pp. 1185-1240
    • Engel, A.G.1
  • 2
    • 0023614188 scopus 로고
    • Dystrophin: the protein product of the Duchenne muscular dystrophy locus
    • Hoffmann E.P., Brown R.H., and Kunkel. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51 (1987) 919-928
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffmann, E.P.1    Brown, R.H.2    Kunkel3
  • 3
    • 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 E.P., Bertelson C.J., Monaco A.P., Feener C., and Kunkel L.M. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50 (1987) 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
  • 4
    • 0022444372 scopus 로고
    • Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
    • Kunkel L.M., Hejtmancik J.F., Caskey C.T., Speer A., Monaco A.P., Middlesworth W., et al. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 322 (1986) 73-77
    • (1986) Nature , vol.322 , pp. 73-77
    • Kunkel, L.M.1    Hejtmancik, J.F.2    Caskey, C.T.3    Speer, A.4    Monaco, A.P.5    Middlesworth, W.6
  • 5
    • 0023959881 scopus 로고
    • A deletion hot spot in the Duchenne muscular Dystrophy gene
    • Wapennar M.C., Klevits T., and Harti K.A. A deletion hot spot in the Duchenne muscular Dystrophy gene. Genomics 2 (1988) 10-18
    • (1988) Genomics , vol.2 , pp. 10-18
    • Wapennar, M.C.1    Klevits, T.2    Harti, K.A.3
  • 6
    • 0024245082 scopus 로고
    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • Chamberlain J.S., Gibbs R.A., Ranier J.E., Nguyen P.N., and Caskey C.T. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16 (1988) 1141-1156
    • (1988) Nucleic Acids Res , vol.16 , pp. 1141-1156
    • Chamberlain, J.S.1    Gibbs, R.A.2    Ranier, J.E.3    Nguyen, P.N.4    Caskey, C.T.5
  • 7
    • 0025244924 scopus 로고
    • Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
    • Beggs A.H., Koenig M., Boyce F.M., and Kunkel L.M. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86 (1990) 45-48
    • (1990) Hum Genet , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3    Kunkel, L.M.4
  • 8
    • 0025943652 scopus 로고
    • Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms
    • Clemens P.R., Fenwick R.G., Chamberlain J.S., Gibbs R.A., de Andrade M., Chakraborty R., et al. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet 49 (1991) 951-960
    • (1991) Am J Hum Genet , vol.49 , pp. 951-960
    • Clemens, P.R.1    Fenwick, R.G.2    Chamberlain, J.S.3    Gibbs, R.A.4    de Andrade, M.5    Chakraborty, R.6
  • 9
    • 0035075292 scopus 로고    scopus 로고
    • Carrier detection in non-deletional Duchenne/Becker muscular dystrophy families using polymorphic dinucleotide (CA) repeat loci of dystrophin gene
    • Chaturvedi L.S., Srivastava S., Mukherjee M., Mittal R.D., Phadke S.R., Pradhan S., et al. Carrier detection in non-deletional Duchenne/Becker muscular dystrophy families using polymorphic dinucleotide (CA) repeat loci of dystrophin gene. Ind J Med Res 113 (2001) 19-25
    • (2001) Ind J Med Res , vol.113 , pp. 19-25
    • Chaturvedi, L.S.1    Srivastava, S.2    Mukherjee, M.3    Mittal, R.D.4    Phadke, S.R.5    Pradhan, S.6
  • 10
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl. Acids Res 16 (1988) 1215
    • (1988) Nucl. Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 11
    • 0026950937 scopus 로고
    • Two hot spots of recombination in the DMD gene correlate with the deletion prone regions
    • Oudet C., Hanauer A., Clemens P., Caskey T., and Mandel J.L. Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. Hum Mol Genet 1 (1992) 599-603
    • (1992) Hum Mol Genet , vol.1 , pp. 599-603
    • Oudet, C.1    Hanauer, A.2    Clemens, P.3    Caskey, T.4    Mandel, J.L.5
  • 12
    • 0031928771 scopus 로고    scopus 로고
    • Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases
    • Zatz M., Sumita D., Campiotto S., Canovas M., Cerqueira A., Vainzof M., et al. Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases. Am J Med Genet 78 (1998) 361-365
    • (1998) Am J Med Genet , vol.78 , pp. 361-365
    • Zatz, M.1    Sumita, D.2    Campiotto, S.3    Canovas, M.4    Cerqueira, A.5    Vainzof, M.6
  • 13
    • 0025977030 scopus 로고
    • Familial occurrence of Duchenne dystrophy through paternal lines in four families
    • Zatz M., Passos-Bueno M.R., Rapaport D., and Vainzof M. Familial occurrence of Duchenne dystrophy through paternal lines in four families. Am J Med Genet 38 (1991) 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.