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Volumn 4, Issue 2, 2009, Pages

Clinical heterogeneity of Duchenne muscular dystrophy (DMD): Definition of sub-phenotypes and predictive criteria by long-term follow-up

Author keywords

[No Author keywords available]

Indexed keywords

DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DYSTROPHIN;

EID: 84887212371     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0004347     Document Type: Article
Times cited : (141)

References (31)
  • 1
    • 0024600393 scopus 로고
    • Duchenne muscular dystrophy: Patterns of clinical progression and effects of supportive therapy
    • Brooke MH, Fenichel GM, Griggs RC, Mendell JR, Moxley R, et al. (1989) Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology 39: 475-481.
    • (1989) Neurology , vol.39 , pp. 475-481
    • Brooke, M.H.1    Fenichel, G.M.2    Griggs, R.C.3    Mendell, J.R.4    Moxley, R.5
  • 2
    • 0020522923 scopus 로고
    • Clinical investigation in Duchenne Dystrophy: Determination of the power of therapeutic trials based on natural history
    • Brooke MH, Fenichel GM, Griggs RC, Schumate JB, Pellegrino RJ (1983) Clinical investigation in Duchenne Dystrophy: Determination of the power of therapeutic trials based on natural history. Muscle Nerve 6: 91-103.
    • (1983) Muscle Nerve , vol.6 , pp. 91-103
    • Brooke, M.H.1    Fenichel, G.M.2    Griggs, R.C.3    Schumate, J.B.4    Pellegrino, R.J.5
  • 3
    • 18844469600 scopus 로고
    • Clinical investigation of Duchenne muscular dystrophy. A methodology for therapeutic trials based on natural history controls
    • Mendell JR, Province MA, Griggs RC, Brooke MH, Fenichel GM, et al. (1987) Clinical investigation of Duchenne muscular dystrophy. A methodology for therapeutic trials based on natural history controls. Arch Neurol 44: 808-811.
    • (1987) Arch Neurol , vol.44 , pp. 808-811
    • Mendell, J.R.1    Province, M.A.2    Griggs, R.C.3    Brooke, M.H.4    Fenichel, G.M.5
  • 4
    • 1042269555 scopus 로고    scopus 로고
    • Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy
    • Sifringer M, Uhlenberg B, Lammel S, Hanke R, Neumann B, et al. (2004) Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy. Hum Genet 114: 149-156.
    • (2004) Hum Genet , vol.114 , pp. 149-156
    • Sifringer, M.1    Uhlenberg, B.2    Lammel, S.3    Hanke, R.4    Neumann, B.5
  • 6
    • 0042011472 scopus 로고    scopus 로고
    • Novel therapies for Duchenne muscular dystrophy
    • Kapsa R, Kornberg AJ, Byrne E (2003) Novel therapies for Duchenne muscular dystrophy. Lancet Neurol 2: 299-310.
    • (2003) Lancet Neurol , vol.2 , pp. 299-310
    • Kapsa, R.1    Kornberg, A.J.2    Byrne, E.3
  • 7
    • 21844474016 scopus 로고    scopus 로고
    • CINRG randomised controlled trial of creatine and glutamine in Duchenne muscular dystrophy
    • Escolar DM, Buyse G, Henricson E, Leshner R, Florence J, et al. (2005) CINRG randomised controlled trial of creatine and glutamine in Duchenne muscular dystrophy. Ann Neurol 58: 151-155.
    • (2005) Ann Neurol , vol.58 , pp. 151-155
    • Escolar, D.M.1    Buyse, G.2    Henricson, E.3    Leshner, R.4    Florence, J.5
  • 9
    • 0026766161 scopus 로고
    • Genetic and clinical correlation of Xp21 muscular dystrophy
    • Bushby K (1992) Genetic and clinical correlation of Xp21 muscular dystrophy. J Inher Metab Dis 15: 551-564.
    • (1992) J Inher Metab Dis , vol.15 , pp. 551-564
    • Bushby, K.1
  • 10
    • 0027203989 scopus 로고
    • Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical and histopathological data. Trends across the clinical groups
    • Nicholson LV, Johnson MA, Bushby KM, Gardner-Medwin D, Curtis A, et al. (1993) Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical and histopathological data. Trends across the clinical groups. J Med Genet 30: 728-736.
    • (1993) J Med Genet , vol.30 , pp. 728-736
    • Nicholson, L.V.1    Johnson, M.A.2    Bushby, K.M.3    Gardner-Medwin, D.4    Curtis, A.5
  • 11
    • 0019454467 scopus 로고
    • Loss of strength and functional decline in Duchenne's dystrophy
    • Allsop KG, Ziter FA (1981) Loss of strength and functional decline in Duchenne's dystrophy. Arch Neurol 38: 406-411.
    • (1981) Arch Neurol , vol.38 , pp. 406-411
    • Allsop, K.G.1    Ziter, F.A.2
  • 12
  • 13
    • 33845989867 scopus 로고    scopus 로고
    • Reliable surrogate outcome measures in multicenter clinical trials of Duchenne muscular dystrophy
    • Mayhew JE, Florence JM, Mayhew TP, Henricson EK, Leshner RT, et al. (2006) Reliable surrogate outcome measures in multicenter clinical trials of Duchenne muscular dystrophy. Muscle Nerve 35: 36-42.
    • (2006) Muscle Nerve , vol.35 , pp. 36-42
    • Mayhew, J.E.1    Florence, J.M.2    Mayhew, T.P.3    Henricson, E.K.4    Leshner, R.T.5
  • 14
    • 0347480491 scopus 로고    scopus 로고
    • The Duchenne muscular dystrophy population in Denmark, 1977-2001: Prevalence, incidence and survival in relation to the introduction of ventilator use
    • Jeppesen J, Green A, Steffensen BF, Rahbek J (2003) The Duchenne muscular dystrophy population in Denmark, 1977-2001: prevalence, incidence and survival in relation to the introduction of ventilator use. Neuromuscul Disord 13: 804-812.
    • (2003) Neuromuscul Disord , vol.13 , pp. 804-812
    • Jeppesen, J.1    Green, A.2    Steffensen, B.F.3    Rahbek, J.4
  • 15
    • 34249099687 scopus 로고    scopus 로고
    • Managing Duchenne muscular dystrophy. The additive effect of spinal surgery and home nocturnal ventilation in improving survival
    • Eagle M, Bourke J, Bullock R Gibson M, Struab V, et al. (2007) Managing Duchenne muscular dystrophy. The additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord 17: 470-475.
    • (2007) Neuromuscul Disord , vol.17 , pp. 470-475
    • Eagle, M.1    Bourke, J.2    Bullock, R.3    Gibson, M.4    Struab, V.5
  • 16
    • 14844318046 scopus 로고    scopus 로고
    • Effect of Perindopril on the onset and progression of Left Ventricular Dysfunction in Duchenne Muscular Dystrophy
    • Duboc D, Meune C, Lerebours G, Devaux JY, Vaksmann G, et al. (2005) Effect of Perindopril on the onset and progression of Left Ventricular Dysfunction in Duchenne Muscular Dystrophy. J Am Coll Cardiol 45: 855-867.
    • (2005) J Am Coll Cardiol , vol.45 , pp. 855-867
    • Duboc, D.1    Meune, C.2    Lerebours, G.3    Devaux, J.Y.4    Vaksmann, G.5
  • 17
    • 0034611996 scopus 로고    scopus 로고
    • Establishing a standard definition for child overweight and obesity worldwide: International survey
    • Cole TJ, Bellizini MC, Flegal KM, Dietz WH (2000) Establishing a standard definition for child overweight and obesity worldwide: international survey. BMJ 320: 1240-1243.
    • (2000) BMJ , vol.320 , pp. 1240-1243
    • Cole, T.J.1    Bellizini, M.C.2    Flegal, K.M.3    Dietz, W.H.4
  • 18
    • 1342282774 scopus 로고    scopus 로고
    • Specific cognitive deficits are common in children with Duchenne Muscular Dystrophy
    • Wicksell RK, Khilgren M, Melin L, Orvar EO (2004) Specific cognitive deficits are common in children with Duchenne Muscular Dystrophy. Dev Med and Child Neurol 46: 154-156.
    • (2004) Dev Med and Child Neurol , vol.46 , pp. 154-156
    • Wicksell, R.K.1    Khilgren, M.2    Melin, L.3    Orvar, E.O.4
  • 19
    • 33846932068 scopus 로고    scopus 로고
    • Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene
    • Deburgrave N, Daoud F, Llense S, Barbot JC, Recan D, et al. (2007) Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat 28: 183-195.
    • (2007) Hum Mutat , vol.28 , pp. 183-195
    • Deburgrave, N.1    Daoud, F.2    Llense, S.3    Barbot, J.C.4    Recan, D.5
  • 20
    • 0344420060 scopus 로고    scopus 로고
    • 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
  • 21
    • 84887212837 scopus 로고    scopus 로고
    • Meulman J, Van der Kooij AJ, Heiser WJ (2004) Principal components analysis with non linear optimal scaling transformations for ordinal and nominal data. In: Kaplan D, ed. Handbook of quantitative methodolgy for the social sciences. Thousand Oaks: Sage Publications, Inc. pp 49-70.
    • Meulman J, Van der Kooij AJ, Heiser WJ (2004) Principal components analysis with non linear optimal scaling transformations for ordinal and nominal data. In: Kaplan D, ed. Handbook of quantitative methodolgy for the social sciences. Thousand Oaks: Sage Publications, Inc. pp 49-70.
  • 22
    • 0032810346 scopus 로고    scopus 로고
    • Delineation of cryptogenic Lennox Gastaud syndrome and myoclonic astatic epilepsy using multiple correspondence analysis
    • Kaminska A, Ickowicz A, Plouin P, Bru MF, Dellatollas G, et al. (1999) Delineation of cryptogenic Lennox Gastaud syndrome and myoclonic astatic epilepsy using multiple correspondence analysis. Epilepsy Res 36: 15-29.
    • (1999) Epilepsy Res , vol.36 , pp. 15-29
    • Kaminska, A.1    Ickowicz, A.2    Plouin, P.3    Bru, M.F.4    Dellatollas, G.5
  • 23
    • 0037160696 scopus 로고    scopus 로고
    • Evidence base of clinical diagnosis: Evaluation of diagnostic procedures
    • Knottnerus JA, van Weel C, Muris JWM (2002) Evidence base of clinical diagnosis: evaluation of diagnostic procedures. BMJ 324: 477-480.
    • (2002) BMJ , vol.324 , pp. 477-480
    • Knottnerus, J.A.1    van Weel, C.2    Muris, J.W.M.3
  • 24
    • 84887212872 scopus 로고    scopus 로고
    • Available:, Accessed 12 March 2008
    • Uitenbroek DG (1997) SISA Diagnostic accuracy. Available: http://www.quantitativeskills.com/sisa/statistics/diagnos.htm. Accessed 12 March 2008.
    • (1997) SISA Diagnostic accuracy
    • Uitenbroek, D.G.1
  • 25
    • 34248665813 scopus 로고    scopus 로고
    • Empirically derived phenotypic subgroups - qualitative and quantitative trait analyses
    • Wilcox MA, Wysnzynski DF, Panhuysen CI, Ma Q, Yip A, et al. (2003) Empirically derived phenotypic subgroups - qualitative and quantitative trait analyses. BMC Genetics 4(Suppl 1): S15.
    • (2003) BMC Genetics , vol.4 , Issue.SUPPL. 1
    • Wilcox, M.A.1    Wysnzynski, D.F.2    Panhuysen, C.I.3    Ma, Q.4    Yip, A.5
  • 26
    • 17244377579 scopus 로고    scopus 로고
    • Two major spondylarthropathy phenotypes are distinguished by pattern analysis in multiplex families
    • Wilcox MA, Wysnzynski DF, Panhuysen CI, Ma Q, Yip A, et al. (2005) Two major spondylarthropathy phenotypes are distinguished by pattern analysis in multiplex families. Arthritis Rheum 53: 263-271.
    • (2005) Arthritis Rheum , vol.53 , pp. 263-271
    • Wilcox, M.A.1    Wysnzynski, D.F.2    Panhuysen, C.I.3    Ma, Q.4    Yip, A.5
  • 27
    • 16644394038 scopus 로고    scopus 로고
    • Spinal muscular amyotrophy: Survival pattern and functional status
    • Chung B, Wong V, Ip P (2004) Spinal muscular amyotrophy: Survival pattern and functional status. Pediatrics 114: 548-553.
    • (2004) Pediatrics , vol.114 , pp. 548-553
    • Chung, B.1    Wong, V.2    Ip, P.3
  • 28
    • 0033178315 scopus 로고    scopus 로고
    • Typology and correlates of sexual abuse in children and youth: Multivariate analyses in a prevalence study in Geneva
    • Bouvier P, Halperin D, Rey H, Jaffe PD, Laederach J, et al. (1999) Typology and correlates of sexual abuse in children and youth: multivariate analyses in a prevalence study in Geneva. Child Abuse Negl 23: 779-790.
    • (1999) Child Abuse Negl , vol.23 , pp. 779-790
    • Bouvier, P.1    Halperin, D.2    Rey, H.3    Jaffe, P.D.4    Laederach, J.5
  • 29
  • 30
    • 33644856744 scopus 로고    scopus 로고
    • Estimation body composition in children with Duchenne muscular dystrophy:comparison of bioelectrical impedance analysis and skinfold-thickness measurement
    • Mok E, Beghin L, Gauchon P (2006) Estimation body composition in children with Duchenne muscular dystrophy:comparison of bioelectrical impedance analysis and skinfold-thickness measurement. Am J Clin Nutr 83: 63-69.
    • (2006) Am J Clin Nutr , vol.83 , pp. 63-69
    • Mok, E.1    Beghin, L.2    Gauchon, P.3
  • 31
    • 0026718554 scopus 로고
    • Phenotypic heterogeneity and the single gene
    • Suthers GK, Davies KE (1992) Phenotypic heterogeneity and the single gene. Am J Hum Genet 50: 887-891.
    • (1992) Am J Hum Genet , vol.50 , pp. 887-891
    • Suthers, G.K.1    Davies, K.E.2


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