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Volumn 149, Issue 5, 2009, Pages 1052-1055

Homozygous female becker muscular dystrophy

Author keywords

Becker muscular dystrophy; Dystrophin; Homozygous mutations

Indexed keywords

DYSTROPHIN;

EID: 66949161474     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32808     Document Type: Article
Times cited : (30)

References (10)
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    • Katayama Y, Tran VK, Hoan NT, Zhang Z, Goji K, Yagi M, Takeshima Y, Saiki K, Nhan NT, Matsuo M. 2006. Co-occurrence ofmutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy. Hum Genet 119:516-519.
    • (2006) Hum Genet , vol.119 , pp. 516-519
    • Katayama, Y.1    Tran, V.K.2    Hoan, N.T.3    Zhang, Z.4    Goji, K.5    Yagi, M.6    Takeshima, Y.7    Saiki, K.8    Nhan, N.T.9    Matsuo, M.10
  • 5
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    • Dystrophin and mutations: One gene, several proteins, multiple phenotypes
    • Muntoni F, Torelli S, Ferlini A. 2003. Dystrophin and mutations: One gene, several proteins, multiple phenotypes. Lancet Neurol 2:731-740.
    • (2003) Lancet Neurol , vol.2 , pp. 731-740
    • Muntoni, F.1    Torelli, S.2    Ferlini, A.3
  • 6
    • 0034711744 scopus 로고    scopus 로고
    • Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family
    • Palmucci L, Mongini T, Chiado-Piat L, Doriguzzi C, Fubini A. 2000. Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family. Neurology 54:529-530.
    • (2000) Neurology , vol.54 , pp. 529-530
    • Palmucci, L.1    Mongini, T.2    Chiado-Piat, L.3    Doriguzzi, C.4    Fubini, A.5
  • 8
    • 0021277940 scopus 로고
    • Expression of an X-linked muscular dystrophyin a female due to translocation involving Xp21 and non-random inactivation ofthe normal X chromosome
    • Verellen-Dumoulin C, Freund M, De Meyer R, Laterre C, Frederic J, Thompson MW, Markovic VD, Worton RG. 1984. Expression of an X-linked muscular dystrophyin a female due to translocation involving Xp21 and non-random inactivation ofthe normal X chromosome. Hum Genet 67:115-119.
    • (1984) Hum Genet , vol.67 , pp. 115-119
    • Verellen-Dumoulin, C.1    Freund, M.2    De Meyer, R.3    Laterre, C.4    Frederic, J.5    Thompson, M.W.6    Markovic, V.D.7    Worton, R.G.8
  • 9
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    • Copynumber variation in the genome; the human DMD gene as an example
    • White SJ, den Dunnen JT. 2006. Copynumber variation in the genome; the human DMD gene as an example. Cytogenet Genome Res 115:240-246.
    • (2006) Cytogenet Genome Res , vol.115 , pp. 240-246
    • White, S.J.1    den Dunnen, J.T.2
  • 10
    • 0031968341 scopus 로고    scopus 로고
    • Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy
    • Yoshioka M, Yorifuji T, Mituyoshi I. 1998. Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy. Clin Genet 53:102-107.
    • (1998) Clin Genet , vol.53 , pp. 102-107
    • Yoshioka, M.1    Yorifuji, T.2    Mituyoshi, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.