메뉴 건너뛰기




Volumn 84, Issue 3, 2013, Pages 265-270

Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters

Author keywords

DMD carriers; Dystrophin gene; Skewed X inactivation; X inactivation

Indexed keywords

ANDROGEN RECEPTOR; DNA; DYSTROPHIN; GENOMIC DNA;

EID: 84881611731     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12048     Document Type: Article
Times cited : (38)

References (28)
  • 1
    • 0016173374 scopus 로고
    • The manifesting carrier in Duchenne muscular dystrophy
    • Moser H, Emery AE. The manifesting carrier in Duchenne muscular dystrophy. Clin Genet 1974: 5: 271-284.
    • (1974) Clin Genet , vol.5 , pp. 271-284
    • Moser, H.1    Emery, A.E.2
  • 2
    • 0024334813 scopus 로고
    • A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales
    • Norman A, Harper P. A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales. Clin Genet 1989: 36: 31-37.
    • (1989) Clin Genet , vol.36 , pp. 31-37
    • Norman, A.1    Harper, P.2
  • 4
    • 79951953733 scopus 로고    scopus 로고
    • Canadian Pediatric Neuromuscular Group. Symptomatic dystrophinopathies in female children
    • Seemann N, Selby K, McAdam L et al. Canadian Pediatric Neuromuscular Group. Symptomatic dystrophinopathies in female children. Neuromuscul Disord 2011: 21: 172-177.
    • (2011) Neuromuscul Disord , vol.21 , pp. 172-177
    • Seemann, N.1    Selby, K.2    McAdam, L.3
  • 5
    • 84861660093 scopus 로고    scopus 로고
    • Treatment of dystrophinopathic cardiomyopathy: review of the literature and personal results
    • Politano L, Nigro G. Treatment of dystrophinopathic cardiomyopathy: review of the literature and personal results. Acta Myol 2012: XXXI: 24-30.
    • (2012) Acta Myol , vol.31 , pp. 24-30
    • Politano, L.1    Nigro, G.2
  • 6
    • 0026510987 scopus 로고
    • The cardiomyopathy of Duchenne/Becker consultands
    • Comi LI, Nigro G, Politano L, Petretta VR. The cardiomyopathy of Duchenne/Becker consultands. Int J Cardiol 1992: 34 (3): 297-305.
    • (1992) Int J Cardiol , vol.34 , Issue.3 , pp. 297-305
    • Comi, L.I.1    Nigro, G.2    Politano, L.3    Petretta, V.R.4
  • 7
    • 0029157717 scopus 로고
    • Structural basis of cardiomyopathy in Duchenne/Becker carriers. Endomyocardial biopsy evaluation
    • Nigro G, Di Somma S, Comi LI et al. Structural basis of cardiomyopathy in Duchenne/Becker carriers. Endomyocardial biopsy evaluation. Ann N Y Acad Sci 1995: 752: 108-110.
    • (1995) Ann N Y Acad Sci , vol.752 , pp. 108-110
    • Nigro, G.1    Di Somma, S.2    Comi, L.I.3
  • 8
    • 0029971310 scopus 로고    scopus 로고
    • Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies
    • Politano L, Nigro V, Nigro G et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996: 275: 1335-1338.
    • (1996) JAMA , vol.275 , pp. 1335-1338
    • Politano, L.1    Nigro, V.2    Nigro, G.3
  • 9
    • 0027374166 scopus 로고
    • Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy
    • Mirabella M, Servidei S, Manfredi G et al. Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 1993: 43: 2342-2345.
    • (1993) Neurology , vol.43 , pp. 2342-2345
    • Mirabella, M.1    Servidei, S.2    Manfredi, G.3
  • 10
    • 9344257448 scopus 로고    scopus 로고
    • Cardiomyopathies associated with Muscular Dystrophies
    • Engel A, Franzini-Armstrong C, eds. New York, NY: Mac Graw-Hill
    • Nigro G, Comi LI, Politano L, Nigro G. Cardiomyopathies associated with Muscular Dystrophies. In: Engel A, Franzini-Armstrong C, eds. Myology. New York, NY: Mac Graw-Hill, 2004: 1239-1256.
    • (2004) Myology , pp. 1239-1256
    • Nigro, G.1    Comi, L.I.2    Politano, L.3    Nigro, G.4
  • 11
    • 0033583984 scopus 로고    scopus 로고
    • Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study
    • Hoogerwaard EM, Bakker E, Ippel PF et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999: 353: 2116-2119.
    • (1999) Lancet , vol.353 , pp. 2116-2119
    • Hoogerwaard, E.M.1    Bakker, E.2    Ippel, P.F.3
  • 12
    • 0029051456 scopus 로고
    • X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes
    • Azofeifa J, Voit T, Hübner C et al. X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet 1995: 96: 167-176.
    • (1995) Hum Genet , vol.96 , pp. 167-176
    • Azofeifa, J.1    Voit, T.2    Hübner, C.3
  • 13
    • 0027238721 scopus 로고
    • Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy
    • Bushby KM, Goodship JA, Nicholson LV et al. Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1993: 3: 57-64.
    • (1993) Neuromuscul Disord , vol.3 , pp. 57-64
    • Bushby, K.M.1    Goodship, J.A.2    Nicholson, L.V.3
  • 14
    • 0028329777 scopus 로고
    • Skewed inactivation of an X-chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter
    • Tihy F, Vogt N, Recan D et al. Skewed inactivation of an X-chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter. Hum Genet 1994: 93: 563-567.
    • (1994) Hum Genet , vol.93 , pp. 563-567
    • Tihy, F.1    Vogt, N.2    Recan, D.3
  • 15
    • 0031968341 scopus 로고    scopus 로고
    • Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy
    • Yoshioka M, Yorifuji T, Mituyoshi I. Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy. Clin Genet 1998: 53: 102-107.
    • (1998) Clin Genet , vol.53 , pp. 102-107
    • Yoshioka, M.1    Yorifuji, T.2    Mituyoshi, I.3
  • 16
    • 0025329757 scopus 로고
    • Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy
    • Richards CS, Watkins SC, Hoffman EP et al. Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet 1990: 46: 672-681.
    • (1990) Am J Hum Genet , vol.46 , pp. 672-681
    • Richards, C.S.1    Watkins, S.C.2    Hoffman, E.P.3
  • 17
    • 0025733349 scopus 로고
    • Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy
    • Lupski JR, Garcia CA, Zoghbi HY et al. Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am J Med Genet 1991: 40: 354-364.
    • (1991) Am J Med Genet , vol.40 , pp. 354-364
    • Lupski, J.R.1    Garcia, C.A.2    Zoghbi, H.Y.3
  • 18
    • 77955268106 scopus 로고    scopus 로고
    • Clinical and genetic characterization of manifesting carriers of DMD mutations
    • Soltanzadeh P, Friez MJ, Dunn D et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord 2010: 20: 499-504.
    • (2010) Neuromuscul Disord , vol.20 , pp. 499-504
    • Soltanzadeh, P.1    Friez, M.J.2    Dunn, D.3
  • 19
    • 0029060891 scopus 로고
    • Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers
    • Matthews PM, Benjamin D, Van Bakel I et al. Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers. Neuromuscul Disord 1995: 5: 209-220.
    • (1995) Neuromuscul Disord , vol.5 , pp. 209-220
    • Matthews, P.M.1    Benjamin, D.2    Van Bakel, I.3
  • 20
    • 77954528283 scopus 로고    scopus 로고
    • A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort
    • Carsana A, Frisso G, Intrieri M et al. A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort. Front Biosci (Elite Ed) 2010: 2: 547-558.
    • (2010) Front Biosci (Elite Ed) , vol.2 , pp. 547-558
    • Carsana, A.1    Frisso, G.2    Intrieri, M.3
  • 21
    • 79953762347 scopus 로고    scopus 로고
    • Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis
    • Yoon J, Kim SH, Ki CS et al. Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis. J Korean Med Sci 2011: 26: 587-591.
    • (2011) J Korean Med Sci , vol.26 , pp. 587-591
    • Yoon, J.1    Kim, S.H.2    Ki, C.S.3
  • 22
    • 0031740808 scopus 로고    scopus 로고
    • Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers
    • Sumita DR, Vainzof M, Campiotto S et al. Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers. Am J Med Genet 1998: 80: 356-361.
    • (1998) Am J Med Genet , vol.80 , pp. 356-361
    • Sumita, D.R.1    Vainzof, M.2    Campiotto, S.3
  • 23
    • 84864959089 scopus 로고    scopus 로고
    • Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
    • Brioschi S, Gualandi F, Scotton C et al. Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. BMC Med Genet 2012: 13: 73.
    • (2012) BMC Med Genet , vol.13 , pp. 73
    • Brioschi, S.1    Gualandi, F.2    Scotton, C.3
  • 24
    • 0026678490 scopus 로고
    • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X-chromosome inactivation
    • Allen RC, Zoghbi HY, Moseley AB et al. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X-chromosome inactivation. Am J Hum Genet 1992: 51: 1229-1239.
    • (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3
  • 25
    • 82955175544 scopus 로고    scopus 로고
    • SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy: predicting the severity of Duchenne muscular dystrophy: implications for treatment
    • Kyriakides T, Pegoraro E, Hoffman EP et al. SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy: predicting the severity of Duchenne muscular dystrophy: implications for treatment. Neurology 2011: 77: 1858-1859.
    • (2011) Neurology , vol.77 , pp. 1858-1859
    • Kyriakides, T.1    Pegoraro, E.2    Hoffman, E.P.3
  • 26
    • 0028904169 scopus 로고
    • Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei
    • Pegoraro E, Schimke RN, Garcia C et al. Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurology 1995: 45 (4): 677-690.
    • (1995) Neurology , vol.45 , Issue.4 , pp. 677-690
    • Pegoraro, E.1    Schimke, R.N.2    Garcia, C.3
  • 27
    • 0030062816 scopus 로고    scopus 로고
    • X-chromosome methylation ratios as indicators of chromosomal activity: evidence of intraindividual divergencies among tissues of different embryonal origin
    • Azofeifa J, Waldherr R, Cremer M. X-chromosome methylation ratios as indicators of chromosomal activity: evidence of intraindividual divergencies among tissues of different embryonal origin. Hum Genet 1996: 97 (3): 330-333.
    • (1996) Hum Genet , vol.97 , Issue.3 , pp. 330-333
    • Azofeifa, J.1    Waldherr, R.2    Cremer, M.3
  • 28
    • 0033762221 scopus 로고    scopus 로고
    • Age- and tissue-specific variation of X-chromosome inactivation ratios in normal women
    • Sharp A, Robinson D, Jacobs P. Age- and tissue-specific variation of X-chromosome inactivation ratios in normal women. Hum Genet 2000: 107: 343-349.
    • (2000) Hum Genet , vol.107 , pp. 343-349
    • Sharp, A.1    Robinson, D.2    Jacobs, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.