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Volumn 108, Issue SEPT., 1998, Pages 93-97

Deletion analysis and calpain status for carrier detection in a family with Duchenne muscular dystrophy

Author keywords

Calpain; Carriers; Deletions; Duchenne muscular dystrophy (DMD); Platelets; Polymerase chain reaction (PCR)

Indexed keywords

CALPAIN;

EID: 0344505801     PISSN: 09715916     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (17)
  • 1
    • 0017601373 scopus 로고
    • Muscle histology and creatine kinase levels in the foetus in Duchenne muscular dystrophy
    • Emery AEH. Muscle histology and creatine kinase levels in the foetus in Duchenne muscular dystrophy. Nature 1977; 266 : 472-3.
    • (1977) Nature , vol.266 , pp. 472-473
    • Emery, A.E.H.1
  • 3
    • 0023745057 scopus 로고
    • Intragenic deletions in 21 Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA. Location of breakpoints on HindIII and BgIII exon-containing fragment maps, meiotic and mitotic origin of the mutations
    • Darras BT, Blattner P, Harper JF, Spiro AJ, Alter S, Franke U. Intragenic deletions in 21 Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA. Location of breakpoints on HindIII and BgIII exon-containing fragment maps, meiotic and mitotic origin of the mutations. Am J Hum Genet 1988; 43 : 620-9.
    • (1988) Am J Hum Genet , vol.43 , pp. 620-629
    • Darras, B.T.1    Blattner, P.2    Harper, J.F.3    Spiro, A.J.4    Alter, S.5    Franke, U.6
  • 4
    • 0025244924 scopus 로고
    • Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
    • Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990; 86 : 45-8.
    • (1990) Hum Genet , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3    Kunkel, L.M.4
  • 5
    • 0023921593 scopus 로고
    • Direct method for prenatal diagnosis and carrier detection in Duchenne/ Becker muscular dystrophy using the entire dystrophin cDNA
    • Darras BT, Koenig M, Kunkel LM, Francke U. Direct method for prenatal diagnosis and carrier detection in Duchenne/ Becker muscular dystrophy using the entire dystrophin cDNA. Am J Med Genet 1988; 29 : 713-26.
    • (1988) Am J Med Genet , vol.29 , pp. 713-726
    • Darras, B.T.1    Koenig, M.2    Kunkel, L.M.3    Francke, U.4
  • 6
    • 0026728276 scopus 로고
    • Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis
    • Ioannou P, Christopoulos G, Panayides K, Kleanthous M, Middleton L. Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis. Neurology 1992; 42 : 1783-90.
    • (1992) Neurology , vol.42 , pp. 1783-1790
    • Ioannou, P.1    Christopoulos, G.2    Panayides, K.3    Kleanthous, M.4    Middleton, L.5
  • 7
    • 0017797971 scopus 로고
    • Intracellular calcium accumulation in Duchenne dystrophy and other myopathies. A study of 567000 muscle fibres in 114 biopsies
    • Bodensteiner JB, Engel AG. Intracellular calcium accumulation in Duchenne dystrophy and other myopathies. A study of 567000 muscle fibres in 114 biopsies. Neurology 1978; 28: 439-45.
    • (1978) Neurology , vol.28 , pp. 439-445
    • Bodensteiner, J.B.1    Engel, A.G.2
  • 8
    • 0024300374 scopus 로고
    • Platelet intracellular calcium in patients with Duchenne muscular dystrophy
    • Lechi C, Sinigaglia D, Guzzo P, Bonadonna G, Zatti M. Platelet intracellular calcium in patients with Duchenne muscular dystrophy. Clin Chim Acta 1988; 177 : 119-22.
    • (1988) Clin Chim Acta , vol.177 , pp. 119-122
    • Lechi, C.1    Sinigaglia, D.2    Guzzo, P.3    Bonadonna, G.4    Zatti, M.5
  • 9
    • 0017101439 scopus 로고
    • 2+ -activated protease possibly involved in myofibrillar protein turnover. Purification from porcine muscle
    • 2+ -activated protease possibly involved in myofibrillar protein turnover. Purification from porcine muscle. Biochemistry 1976; 15 : 2150-8.
    • (1976) Biochemistry , vol.15 , pp. 2150-2158
    • Dayton, W.R.1    Goll, D.E.2    Zeece, M.G.3    Robson, R.M.4    Reville, W.J.5
  • 10
    • 0017141744 scopus 로고
    • A calcium-activated neutral protease in normal and dystrophic human muscle
    • Kar NC, Pearson CM. A calcium-activated neutral protease in normal and dystrophic human muscle. Clin Chim Acta 1976; 73 : 293-7.
    • (1976) Clin Chim Acta , vol.73 , pp. 293-297
    • Kar, N.C.1    Pearson, C.M.2
  • 11
    • 0032509839 scopus 로고    scopus 로고
    • Quantitative ELISA for platelet m-calpain a phenotypic index for detection of carriers of Duchenne muscular dystrophy
    • Hussain T, Kumar DVN, Sundaram C, Mohandas S, Anandaraj MPJS. Quantitative ELISA for platelet m-calpain a phenotypic index for detection of carriers of Duchenne muscular dystrophy. Clin Chim Acta 1998; 269 : 13-20.
    • (1998) Clin Chim Acta , vol.269 , pp. 13-20
    • Hussain, T.1    Kumar, D.V.N.2    Sundaram, C.3    Mohandas, S.4    Anandaraj, M.P.J.S.5
  • 13
    • 0021719174 scopus 로고
    • Calcium activated neutral protease from muscle and platelets of Duchenne muscular dystrophy
    • Rabbani N, Moses L, Anandavalli TE, Anandaraj MPJS. Calcium activated neutral protease from muscle and platelets of Duchenne muscular dystrophy. Clin Chim Acta 1984; 143 : 163-8.
    • (1984) Clin Chim Acta , vol.143 , pp. 163-168
    • Rabbani, N.1    Moses, L.2    Anandavalli, T.E.3    Anandaraj, M.P.J.S.4
  • 14
    • 0017350087 scopus 로고
    • Platelet plasma membrane glycoproteins: Evidence for the presence of nonequivalent disulfide bonds using non reduced-reduced two dimensional gel electrophoresis
    • Phillips DR, Agin PP. Platelet plasma membrane glycoproteins: Evidence for the presence of nonequivalent disulfide bonds using non reduced-reduced two dimensional gel electrophoresis. J Biol Chem 1977; 252 : 2121-6.
    • (1977) J Biol Chem , vol.252 , pp. 2121-2126
    • Phillips, D.R.1    Agin, P.P.2
  • 17
    • 0024245082 scopus 로고
    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988; 16: 11141-56.
    • (1988) Nucleic Acids Res , vol.16 , pp. 11141-11156
    • Chamberlain, J.S.1    Gibbs, R.A.2    Ranier, J.E.3    Nguyen, P.N.4    Caskey, C.T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.