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Volumn 16, Issue 8, 2010, Pages 978-987

Muscular dystrophies: Histology, immunohistochemistry, molecular genetics and management

Author keywords

CMD; Dystrophies; Exon skipping; LGMD; Theraphy

Indexed keywords

MYOSTATIN; PARVOVIRUS VECTOR; TRANSFORMING GROWTH FACTOR BETA1;

EID: 77950240417     PISSN: 13816128     EISSN: None     Source Type: Journal    
DOI: 10.2174/138161210790883471     Document Type: Review
Times cited : (10)

References (101)
  • 1
    • 4444234437 scopus 로고    scopus 로고
    • The congenital muscular dystrophies in 2004: A century of exciting progress
    • Muntoni F, Voit TC. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord 2004; 14: 635-649
    • (2004) Neuromuscul Disord , vol.14 , pp. 635-649
    • Muntoni, F.1    Voit, T.C.2
  • 2
    • 77649242486 scopus 로고    scopus 로고
    • Muscular dystrophy: Central nervous system α-dystroglycan glycosylation defects and brain malformation
    • in press
    • Fagiolari G, Cappellini A, Cagliani R, Prelle A, Lucchini V, Fortunato F, et al. Muscular dystrophy: central nervous system α-dystroglycan glycosylation defects and brain malformation. J Child Neurol 2009; in press.
    • (2009) J Child Neurol
    • Fagiolari, G.1    Cappellini, A.2    Cagliani, R.3    Prelle, A.4    Lucchini, V.5    Fortunato, F.6
  • 3
    • 0036378561 scopus 로고    scopus 로고
    • Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy
    • Bertini E, Pepe G. Collagen type VI and related disorders: bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Eur J Paediatr Neurol 2002; 6(4): 193-198
    • (2002) Eur J Paediatr Neurol , vol.6 , Issue.4 , pp. 193-198
    • Bertini, E.1    Pepe, G.2
  • 6
    • 0029060893 scopus 로고
    • Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy
    • Dubowitz V, Fardeau M. Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy. Neuromuscul Disord 1995; 5: 253-258
    • (1995) Neuromuscul Disord , vol.5 , pp. 253-258
    • Dubowitz, V.1    Fardeau, M.2
  • 8
    • 10744226857 scopus 로고    scopus 로고
    • Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha dystroglycan
    • Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha dystroglycan. Hum Mol Genet 2003; 12(21): 2853-2861
    • (2003) Hum Mol Genet , vol.12 , Issue.21 , pp. 2853-2861
    • Longman, C.1    Brockington, M.2    Torelli, S.3    Jimenez-Mallebrera, C.4    Kennedy, C.5    Khalil, N.6
  • 9
    • 32244440192 scopus 로고    scopus 로고
    • Dystroglycan: From biosynthesis to pathogenesis of human disease
    • Barresi R, Campbell KP. Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci 2006; 119(Pt 2): 199-207.
    • (2006) J Cell Sci , vol.119 , Issue.PART 2 , pp. 199-207
    • Barresi, R.1    Campbell, K.P.2
  • 10
    • 13844267667 scopus 로고    scopus 로고
    • Dystroglycan: Important player in skeletal muscle and beyond
    • Cohn RD. Dystroglycan: important player in skeletal muscle and beyond. Neuromuscul Disord 2005; 15(3): 207-217
    • (2005) Neuromuscul Disord , vol.15 , Issue.3 , pp. 207-217
    • Cohn, R.D.1
  • 12
  • 13
    • 67649229495 scopus 로고    scopus 로고
    • Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study
    • Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009; 72(21): 1802-1809
    • (2009) Neurology , vol.72 , Issue.21 , pp. 1802-1809
    • Mercuri, E.1    Messina, S.2    Bruno, C.3    Mora, M.4    Pegoraro, E.5    Comi, G.P.6
  • 14
    • 33748296316 scopus 로고    scopus 로고
    • The laminopathies: A clinical review
    • Review. Erratum in: Clin Genet 2007; 71(3): 293
    • Rankin J, Ellard S. The laminopathies: a clinical review. Clin Genet 2006; 70(4): 261-74. Review. Erratum in: Clin Genet 2007; 71(3): 293.
    • (2006) Clin Genet , vol.70 , Issue.4 , pp. 261-274
    • Rankin, J.1    Ellard, S.2
  • 15
    • 0025309303 scopus 로고
    • Molecular genetics of Duchenne and Becker muscular dystrophy
    • Darras BT. Molecular genetics of Duchenne and Becker muscular dystrophy. J Pediatr 1990; 117: 1-15.
    • (1990) J Pediatr , vol.117 , pp. 1-15
    • Darras, B.T.1
  • 16
    • 67650489602 scopus 로고    scopus 로고
    • Diagnosis and new treatments in muscular dystrophies
    • Manzur AY, Muntoni F. Diagnosis and new treatments in muscular dystrophies. J Neurol Neurosurg Psychiatry 2009; 80(7): 706-714
    • (2009) J Neurol Neurosurg Psychiatry , vol.80 , Issue.7 , pp. 706-714
    • Manzur, A.Y.1    Muntoni, F.2
  • 17
    • 33745587817 scopus 로고    scopus 로고
    • Muscular dystrophies
    • Darras BT. Muscular dystrophies. Continuum 2006; 12: 33-75.
    • (2006) Continuum , vol.12 , pp. 33-75
    • Darras, B.T.1
  • 18
    • 1342282774 scopus 로고    scopus 로고
    • Specific cognitive deficits are common in children with Duchenne muscular dystrophy
    • Wicksell RK, Kihlgren M, Melin L, Eeg-Olofsson O. Specific cognitive deficits are common in children with Duchenne muscular dystrophy. Dev Med Child Neurol 2004; 46: 154-159
    • (2004) Dev Med Child Neurol , vol.46 , pp. 154-159
    • Wicksell, R.K.1    Kihlgren, M.2    Melin, L.3    Eeg-Olofsson, O.4
  • 19
    • 0027537918 scopus 로고
    • The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy: I. Natural history
    • Bushby KM, Gardner-Medwin D. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy: I. Natural history. J Neurol 1993; 240: 98-104.
    • (1993) J Neurol , vol.240 , pp. 98-104
    • Bushby, K.M.1    Gardner-Medwin, D.2
  • 20
    • 0029015791 scopus 로고
    • X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome
    • Gedeon AK, Wilson MJ, Colley AC, Sillence DO, Mulley JC. X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. J Med Genet 1995; 32: 383-388
    • (1995) J Med Genet , vol.32 , pp. 383-388
    • Gedeon, A.K.1    Wilson, M.J.2    Colley, A.C.3    Sillence, D.O.4    Mulley, J.C.5
  • 21
    • 0024455248 scopus 로고
    • Familial X-linkedmyalgia and cramps: A nonprogressive myopathy associated with a deletion in the dystrophin gene
    • Gospe SM, Lazaro RP, Lava NS, Grootscholten PM, Scott MO, Fischbeck KH. Familial X-linkedmyalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. Neurology 1989; 39: 1277-1280
    • (1989) Neurology , vol.39 , pp. 1277-1280
    • Gospe, S.M.1    Lazaro, R.P.2    Lava, N.S.3    Grootscholten, P.M.4    Scott, M.O.5    Fischbeck, K.H.6
  • 23
    • 0024332141 scopus 로고
    • Dystrophin abnormalities in Duchenne/Becker muscular dystrophy
    • Hoffman EP, Kunkel LM. Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron 1989; 1019-1029
    • (1989) Neuron , pp. 1019-1029
    • Hoffman, E.P.1    Kunkel, L.M.2
  • 26
    • 59149104617 scopus 로고    scopus 로고
    • Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - Detection of carrier status in status in symptomatic and asymptomatic female relatives
    • Pikó H, Vancsó V, Nagy B, Bán Z, Herczegfalvi A, Karcagi V. Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in status in symptomatic and asymptomatic female relatives. Neuromuscul Disord 2009; 19(2): 108-112
    • (2009) Neuromuscul Disord , vol.19 , Issue.2 , pp. 108-112
    • Pikó, H.1    Vancsó, V.2    Nagy, B.3    Bán, Z.4    Herczegfalvi, A.5    Karcagi, V.6
  • 27
    • 0032882445 scopus 로고    scopus 로고
    • The limb-girdle muscular dystrophies - Multiple genes, multiple mechanisms
    • Bushby KMD. The limb-girdle muscular dystrophies - multiple genes, multiple mechanisms. Hum Mol Genet 1999; 8: 1875-1882
    • (1999) Hum Mol Genet , vol.8 , pp. 1875-1882
    • Bushby, K.M.D.1
  • 29
    • 25644442465 scopus 로고    scopus 로고
    • Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: Boundaries and contiguities
    • Guglieri M, Magri F, Comi GP. Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities. Clin Chim Acta 2005; 361: 54-79.
    • (2005) Clin Chim Acta , vol.361 , pp. 54-79
    • Guglieri, M.1    Magri, F.2    Comi, G.P.3
  • 30
    • 38949205725 scopus 로고    scopus 로고
    • Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
    • Guglieri M, Magri F, D'Angelo MG. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat 2008; 29(2): 258-266
    • (2008) Hum Mutat , vol.29 , Issue.2 , pp. 258-266
    • Guglieri, M.1    Magri, F.2    D'Angelo, M.G.3
  • 32
    • 38349059064 scopus 로고    scopus 로고
    • Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant
    • Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, et al. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol 2008; 65: 137-141
    • (2008) Arch Neurol , vol.65 , pp. 137-141
    • Clement, E.M.1    Godfrey, C.2    Tan, J.3    Brockington, M.4    Torelli, S.5    Feng, L.6
  • 34
    • 34848837334 scopus 로고    scopus 로고
    • Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
    • Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007; 130: 2725-2735
    • (2007) Brain , vol.130 , pp. 2725-2735
    • Godfrey, C.1    Clement, E.2    Mein, R.3    Brockington, M.4    Smith, J.5    Talim, B.6
  • 35
    • 0025869545 scopus 로고
    • Prednisone in Duchenne dystrophy: A randomized, controlled trial defining the time course and dose response
    • Clinical Investigation of Duchenne Dystrophy Group
    • Griggs RC, Moxley RT, 3rd, Mendell JR, Fenichel GM, Brooke MH, Pestronk A, et al. Prednisone in Duchenne dystrophy: a randomized, controlled trial defining the time course and dose response. Clinical Investigation of Duchenne Dystrophy Group. Arch Neurol 1991; 48: 383-388
    • (1991) Arch Neurol , vol.48 , pp. 383-388
    • Griggs, R.C.1    Moxley III, R.T.2    Mendell, J.R.3    Fenichel, G.M.4    Brooke, M.H.5    Pestronk, A.6
  • 37
    • 19944427852 scopus 로고    scopus 로고
    • Practice parameter: Corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
    • Moxley RT, III, Ashwal S, Pandya S, Connolly A, Florence J, Mathews K, et al. Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2005; 64: 13-20
    • (2005) Neurology , vol.64 , pp. 13-20
    • Moxley III, R.T.1    Ashwal, S.2    Pandya, S.3    Connolly, A.4    Florence, J.5    Mathews, K.6
  • 38
    • 41749096186 scopus 로고    scopus 로고
    • Glucocorticoid corticosteroids for Duchenne muscular dystrophy
    • Review
    • Manzur AY, Kukntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for Duchenne muscular dystrophy (Review). Cochrane Libr 2006: 1-41.
    • (2006) Cochrane Libr , pp. 1-41
    • Manzur, A.Y.1    Kukntzer, T.2    Pike, M.3    Swan, A.4
  • 39
    • 1442331625 scopus 로고    scopus 로고
    • Steroid treatment and the development of scoliosis in males with duchenne muscular dystrophy
    • Alman BA, Raza SN, Biggar WD. Steroid treatment and the development of scoliosis in males with duchenne muscular dystrophy. J Bone Joint Surg Am 2004; 86-A: 519-524
    • (2004) J Bone Joint Surg Am , vol.86 A , pp. 519-524
    • Alman, B.A.1    Raza, S.N.2    Biggar, W.D.3
  • 40
    • 33646478253 scopus 로고    scopus 로고
    • Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade
    • Biggar WD, Harris VA, Eliasoph L, Alman B. Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade. Neuromuscl Disord 2006; 16: 249-255
    • (2006) Neuromuscl Disord , vol.16 , pp. 249-255
    • Biggar, W.D.1    Harris, V.A.2    Eliasoph, L.3    Alman, B.4
  • 41
    • 34248201124 scopus 로고    scopus 로고
    • Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy
    • King WM, Ruttencutter R, Nagaraja HN, Matkovic V, Landoll J, Hoyle C, et al. Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy. Neurology 2007; 68: 1607-1613
    • (2007) Neurology , vol.68 , pp. 1607-1613
    • King, W.M.1    Ruttencutter, R.2    Nagaraja, H.N.3    Matkovic, V.4    Landoll, J.5    Hoyle, C.6
  • 42
    • 0036895043 scopus 로고    scopus 로고
    • Survival in Duchenne muscular dystrophy: Improvements in life expectancy since 1967and the impact of home nocturnal ventilation
    • Eagle M, Baudouin S, Chandler C, Giddings DR, Bullock R, Bushby K, et al. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967and the impact of home nocturnal ventilation. Neuromuscl Disord 2002; 12: 926-929
    • (2002) Neuromuscl Disord , vol.12 , pp. 926-929
    • Eagle, M.1    Baudouin, S.2    Chandler, C.3    Giddings, D.R.4    Bullock, R.5    Bushby, K.6
  • 43
    • 0025177380 scopus 로고
    • Long-term follow-up of nocturnal ventilatory assistance in patients with respiratory failure due to Duchennetype muscular dystrophy
    • Mohr CH, Hill NS. Long-term follow-up of nocturnal ventilatory assistance in patients with respiratory failure due to Duchennetype muscular dystrophy. Chest 1990; 97: 91-96
    • (1990) Chest , vol.97 , pp. 91-96
    • Mohr, C.H.1    Hill, N.S.2
  • 44
    • 0031759227 scopus 로고    scopus 로고
    • Impact of nasal ventilation on survival in ypercapnic Duchenne muscular dystrophy
    • Simonds AK, Muntoni F, Heather S, Fielding S. Impact of nasal ventilation on survival in ypercapnic Duchenne muscular dystrophy. Thorax 1998; 53: 949-952
    • (1998) Thorax , vol.53 , pp. 949-952
    • Simonds, A.K.1    Muntoni, F.2    Heather, S.3    Fielding, S.4
  • 45
    • 53049083626 scopus 로고    scopus 로고
    • Approaching a new age in duchenne muscular dystrophy treatment
    • Wagner KR. Approaching a new age in duchenne muscular dystrophy treatment. Neurotherapeutics 2008; 5(4): 583-591
    • (2008) Neurotherapeutics , vol.5 , Issue.4 , pp. 583-591
    • Wagner, K.R.1
  • 46
    • 43449112637 scopus 로고    scopus 로고
    • Corticosteroid treatment retards development of ventricular dysfunction in Duchenne muscular dystrophy
    • Markham LW, Kinnett K, Wong BL, Woodrow Benson D, Cripe LH. Corticosteroid treatment retards development of ventricular dysfunction in Duchenne muscular dystrophy. Neuromuscl Disord 2008; 18: 365-370
    • (2008) Neuromuscl Disord , vol.18 , pp. 365-370
    • Markham, L.W.1    Kinnett, K.2    Wong, B.L.3    Woodrow Benson, D.4    Cripe, L.H.5
  • 47
    • 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, Bécane HM. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. J Am Coll Cardiol 2005; 45: 855-857
    • (2005) J Am Coll Cardiol , vol.45 , pp. 855-857
    • Duboc, D.1    Meune, C.2    Lerebours, G.3    Devaux, J.Y.4    Vaksmann, G.5    Bécane, H.M.6
  • 48
    • 0023266532 scopus 로고
    • Effects of enalapril on mortality in severe congestive heart failure. Results of the Cooperative North Scandinavian Enalapril Survival Study (CONSENSUS)
    • The CONSENSUS Trial Study Group
    • The CONSENSUS Trial Study Group. Effects of enalapril on mortality in severe congestive heart failure. Results of the Cooperative North Scandinavian Enalapril Survival Study (CONSENSUS). New Engl J Med 1987; 316: 1429-1435
    • (1987) New Engl J Med , vol.316 , pp. 1429-1435
  • 49
    • 0025913812 scopus 로고
    • Effect of enalapril on survival in patients with reduced left ventricular ejection fractions and congestive heart failure
    • The SOLVD Investigators
    • The SOLVD Investigators. Effect of enalapril on survival in patients with reduced left ventricular ejection fractions and congestive heart failure. New Engl J Med 1991; 325: 293-302.
    • (1991) New Engl J Med , vol.325 , pp. 293-302
  • 50
    • 0034612118 scopus 로고    scopus 로고
    • Effect of losartan compared with captopril on mortality in patients with symptomaticheart failure: Randomised trial-the Losartan Heart Failure Survival Study ELITE II
    • Pitt B, Poole-Wilson PA, Segal R, Martinez FA, Dickstein K, Camm AJ, et al. Effect of losartan compared with captopril on mortality in patients with symptomaticheart failure: randomised trial-the Losartan Heart Failure Survival Study ELITE II. Lancet 2000; 355: 1582-1587
    • (2000) Lancet , vol.355 , pp. 1582-1587
    • Pitt, B.1    Poole-Wilson, P.A.2    Segal, R.3    Martinez, F.A.4    Dickstein, K.5    Camm, A.J.6
  • 51
    • 0036087342 scopus 로고    scopus 로고
    • Function and genetics of dystrophin and dystrophin-related proteins in muscle
    • Blake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 2002; 82: 291-329.
    • (2002) Physiol Rev , vol.82 , pp. 291-329
    • Blake, D.J.1    Weir, A.2    Newey, S.E.3    Davies, K.E.4
  • 52
    • 0000642664 scopus 로고
    • Satellite cell of skeletal muscle fibers
    • Mauro A. Satellite cell of skeletal muscle fibers. J Biophys Biochem Cytol 1961; 9: 493-495
    • (1961) J Biophys Biochem Cytol , vol.9 , pp. 493-495
    • Mauro, A.1
  • 53
    • 24344459461 scopus 로고    scopus 로고
    • Molecular regulation of satellite cell function
    • Holterman CE, Rudnicki MA. Molecular regulation of satellite cell function. Semin Cell Dev Biol 2005; 16: 575-584
    • (2005) Semin Cell Dev Biol , vol.16 , pp. 575-584
    • Holterman, C.E.1    Rudnicki, M.A.2
  • 54
    • 34648854432 scopus 로고    scopus 로고
    • Genetic treatments in muscular dystrophies
    • Muntoni F, Wells D. Genetic treatments in muscular dystrophies. Curr Opin Neurol 2007; 20: 590-594
    • (2007) Curr Opin Neurol , vol.20 , pp. 590-594
    • Muntoni, F.1    Wells, D.2
  • 55
    • 36249019783 scopus 로고    scopus 로고
    • New therapies for Duchenne muscular dystrophy: Challenges, prospects and clinical trials
    • Cossu G, Sampaolesi M. New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials. Trends Mol Med 2007; 13(12): 520-526
    • (2007) Trends Mol Med , vol.13 , Issue.12 , pp. 520-526
    • Cossu, G.1    Sampaolesi, M.2
  • 57
    • 69949107887 scopus 로고    scopus 로고
    • Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: A single-blind, placebo-controlled, dose-escalation, proof-of-concept study
    • Muntoni F. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol 2009; 8(10): 918-928
    • (2009) Lancet Neurol , vol.8 , Issue.10 , pp. 918-928
    • Muntoni, F.1
  • 59
    • 0037408464 scopus 로고    scopus 로고
    • Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle
    • Dunant P, Walter MC, Karpati G, Lochmuller H. Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle. Muscle Nerve 2003; 27: 624-627
    • (2003) Muscle Nerve , vol.27 , pp. 624-627
    • Dunant, P.1    Walter, M.C.2    Karpati, G.3    Lochmuller, H.4
  • 60
    • 33947529670 scopus 로고    scopus 로고
    • Safety, tolerability and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administrationto healthy male and female adult volunteers
    • Hirawat S, Welch EM, Elfring GL, Northcutt VJ, Paushkin S, Hwang S, et al. Safety, tolerability and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administrationto healthy male and female adult volunteers. J Clin Pharmacol 2007; 47: 430-444
    • (2007) J Clin Pharmacol , vol.47 , pp. 430-444
    • Hirawat, S.1    Welch, E.M.2    Elfring, G.L.3    Northcutt, V.J.4    Paushkin, S.5    Hwang, S.6
  • 61
    • 53049098040 scopus 로고    scopus 로고
    • Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model
    • Wang B, Li J, Xiao X. Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model. Proc Natl Acad Sci USA 2000; 95: 10158-10163
    • (2000) Proc Natl Acad Sci USA , vol.95 , pp. 10158-10163
    • Wang, B.1    Li, J.2    Xiao, X.3
  • 62
    • 0036537529 scopus 로고    scopus 로고
    • Adeno-associated virus vector gene transfer and sarcolemmal expression of a 144 kDa micodystrophin effectively restores the dystrophin-associated protein complex and inhibits myofibre degeneration in nude/ mdx mice
    • Fabb SA, Wells DJ, Serpente P, Dickson G. Adeno-associated virus vector gene transfer and sarcolemmal expression of a 144 kDa micodystrophin effectively restores the dystrophin-associated protein complex and inhibits myofibre degeneration in nude/ mdx mice. Hum Mol Genet 2002; 11: 733-741
    • (2002) Hum Mol Genet , vol.11 , pp. 733-741
    • Fabb, S.A.1    Wells, D.J.2    Serpente, P.3    Dickson, G.4
  • 63
    • 12744269885 scopus 로고    scopus 로고
    • Adeno-associated virus-mediated microdystrophin expression protects young mdx muscle from contraction-induced injury
    • Liu M, Yue Y, Harper SQ, Grange RW, Chamberlain JS, Duan D. Adeno-associated virus-mediated microdystrophin expression protects young mdx muscle from contraction-induced injury. Mol Ther 2005; 11: 245-256
    • (2005) Mol Ther , vol.11 , pp. 245-256
    • Liu, M.1    Yue, Y.2    Harper, S.Q.3    Grange, R.W.4    Chamberlain, J.S.5    Duan, D.6
  • 65
    • 25444461424 scopus 로고    scopus 로고
    • Direct isolation of satellite cells for skeletal muscle regeneration
    • Montarras D, Morgan J, Collins C, Relaix F, Zaffran S, Cumano A, et al. Direct isolation of satellite cells for skeletal muscle regeneration. Science 2005; 23; 309(5743): 2064-2067
    • (2005) Science , vol.23-309 , Issue.5743 , pp. 2064-2067
    • Montarras, D.1    Morgan, J.2    Collins, C.3    Relaix, F.4    Zaffran, S.5    Cumano, A.6
  • 66
    • 34247236574 scopus 로고    scopus 로고
    • Stem and progenitor cells in skeletal muscle development, maintenance, and therapy
    • Péault B, Rudnicki M, Torrente Y, Cossu G, Tremblay JP, Partridge T, et al. Stem and progenitor cells in skeletal muscle development, maintenance, and therapy. Mol Ther 2007; 15: 867-877
    • (2007) Mol Ther , vol.15 , pp. 867-877
    • Péault, B.1    Rudnicki, M.2    Torrente, Y.3    Cossu, G.4    Tremblay, J.P.5    Partridge, T.6
  • 67
    • 0036333788 scopus 로고    scopus 로고
    • The meso-angioblast: A multipotent, selfrenewing cell that originates from the dorsal aorta and differentiates into most mesodermal tissues
    • Minasi MG, Riminucci M, De Angelis L, Borello U, Berarducci B, Innocenzi A, et al. The meso-angioblast: a multipotent, selfrenewing cell that originates from the dorsal aorta and differentiates into most mesodermal tissues. Development 2002; 129: 2773-2783
    • (2002) Development , vol.129 , pp. 2773-2783
    • Minasi, M.G.1    Riminucci, M.2    De Angelis, L.3    Borello, U.4    Berarducci, B.5    Innocenzi, A.6
  • 68
    • 0042344907 scopus 로고    scopus 로고
    • Cell therapy of alpha sarcoglycan null dystrophic mice through intra-arterial delivery of mesoangioblasts
    • Sampaolesi M, Torrente Y, Innocenzi A, Tonlorenzi R, D'Antona G, Pellegrino MA, et al. Cell therapy of alpha sarcoglycan null dystrophic mice through intra-arterial delivery of mesoangioblasts. Science 2003; 301: 487-492
    • (2003) Science , vol.301 , pp. 487-492
    • Sampaolesi, M.1    Torrente, Y.2    Innocenzi, A.3    Tonlorenzi, R.4    D'Antona, G.5    Pellegrino, M.A.6
  • 70
    • 34249782271 scopus 로고    scopus 로고
    • Multipotential mesoangioblast stem cell therapy in the mdx/utrn-/- mouse model for Duchenne muscular dystrophy
    • Berry SE, Liu J, Chaney EJ, Kaufman SJ. Multipotential mesoangioblast stem cell therapy in the mdx/utrn-/- mouse model for Duchenne muscular dystrophy. Regen Med 2007; 2: 275-288
    • (2007) Regen Med , vol.2 , pp. 275-288
    • Berry, S.E.1    Liu, J.2    Chaney, E.J.3    Kaufman, S.J.4
  • 71
    • 33845622494 scopus 로고    scopus 로고
    • Treating muscular dystrophy with stem cells?
    • Davies KE, Ground MD. Treating muscular dystrophy with stem cells? Cell 2007; 127: 1304-1306
    • (2007) Cell , vol.127 , pp. 1304-1306
    • Davies, K.E.1    Ground, M.D.2
  • 72
    • 33947136498 scopus 로고    scopus 로고
    • Too much hype, not enough hope: Are balanced reporting and proper controls too much to expect from therapeutic studies in animal models of neuromuscular diseases that presage clinical trials in humans?
    • Bretag A. Too much hype, not enough hope: Are balanced reporting and proper controls too much to expect from therapeutic studies in animal models of neuromuscular diseases that presage clinical trials in humans? Neuromuscul Disord 2007; 17: 203-205
    • (2007) Neuromuscul Disord , vol.17 , pp. 203-205
    • Bretag, A.1
  • 73
    • 36248958030 scopus 로고    scopus 로고
    • Clinical trial immunosuppressive treatment in Duchenne muscular dystrophy - Update
    • DOI:10.1055/s-2005-867995
    • Schessl J. Clinical trial immunosuppressive treatment in Duchenne muscular dystrophy - update. Neuropediatrics 2005; DOI:10.1055/s-2005-867995 (http: //www.thieme-connect.com/ejournals)
    • (2005) Neuropediatrics
    • Schessl, J.1
  • 74
    • 1842638387 scopus 로고    scopus 로고
    • The calcineurin signal transduction pathway is essential for successful muscle regeneration in the mdx dystrophic mice
    • Stupka N, Gregorevic P, Plant DR, Lynch GS. The calcineurin signal transduction pathway is essential for successful muscle regeneration in the mdx dystrophic mice. Acta Neuropathol 2004; 107: 299-310.
    • (2004) Acta Neuropathol , vol.107 , pp. 299-310
    • Stupka, N.1    Gregorevic, P.2    Plant, D.R.3    Lynch, G.S.4
  • 76
    • 34248227847 scopus 로고    scopus 로고
    • Genetic disruption of calcineurin improves skeletal muscle pathology and cardiac disease in a mouse model of limb-girdle muscular dystrophy
    • Parsons SA, Millay DP, Sargent MA, Naya FJ, McNally EM, Sweeney HL, et al. Genetic disruption of calcineurin improves skeletal muscle pathology and cardiac disease in a mouse model of limb-girdle muscular dystrophy. J Biol Chem 2007; 282: 10068-10078
    • (2007) J Biol Chem , vol.282 , pp. 10068-10078
    • Parsons, S.A.1    Millay, D.P.2    Sargent, M.A.3    Naya, F.J.4    McNally, E.M.5    Sweeney, H.L.6
  • 78
    • 22044450950 scopus 로고    scopus 로고
    • Al Bone marrow stromal cells generate muscle cells and repair muscle degeneration
    • Dezawa M. al Bone marrow stromal cells generate muscle cells and repair muscle degeneration. Science 2005; 309: 314-317
    • (2005) Science , vol.309 , pp. 314-317
    • Dezawa, M.1
  • 79
    • 1542513708 scopus 로고    scopus 로고
    • Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells
    • Bachrach E, Li S, Perez AL, Schienda J, Liadaki K, Volinski J, et al. Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells. Proc Natl Acad Sci USA 2004; 101: 3581-3586
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 3581-3586
    • Bachrach, E.1    Li, S.2    Perez, A.L.3    Schienda, J.4    Liadaki, K.5    Volinski, J.6
  • 80
    • 10244267483 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation does not restore dystrophin expression in Duchenne muscular dystrophy dogs
    • Dell'Agnola C, Wang Z, Storb R, Tapscott SJ, Kuhr CS, Hauschka SD, et al. Hematopoietic stem cell transplantation does not restore dystrophin expression in Duchenne muscular dystrophy dogs. Blood 2004; 104: 4311-4318
    • (2004) Blood , vol.104 , pp. 4311-4318
    • Dell'Agnola, C.1    Wang, Z.2    Storb, R.3    Tapscott, S.J.4    Kuhr, C.S.5    Hauschka, S.D.6
  • 81
    • 13944254851 scopus 로고    scopus 로고
    • Transplanted hematopoietic stem cells demonstrate impaired sarcoglycan expression after engraftment into cardiac and skeletal muscle
    • Lapidos KA, Chen YE, Earley JU, Heydemann A, Huber JM, Chien M, et al. Transplanted hematopoietic stem cells demonstrate impaired sarcoglycan expression after engraftment into cardiac and skeletal muscle. J Clin Invest 2004; 114, 1577-1585
    • (2004) J Clin Invest , vol.114 , pp. 1577-1585
    • Lapidos, K.A.1    Chen, Y.E.2    Earley, J.U.3    Heydemann, A.4    Huber, J.M.5    Chien, M.6
  • 83
    • 36749032678 scopus 로고    scopus 로고
    • Restoration of human dystrophin following transplantation of exon-skipping-engineered DMD patient stem cells into dystrophic mice
    • Benchaouir R, Meregalli M, Farini A, D'Antona G, Belicchi M, Goyenvalle A, et al. Restoration of human dystrophin following transplantation of exon-skipping-engineered DMD patient stem cells into dystrophic mice. Cell Stem Cell 2007; 1(6): 646-657
    • (2007) Cell Stem Cell , vol.1 , Issue.6 , pp. 646-657
    • Benchaouir, R.1    Meregalli, M.2    Farini, A.3    D'Antona, G.4    Belicchi, M.5    Goyenvalle, A.6
  • 84
    • 0031010050 scopus 로고    scopus 로고
    • Regulation of skeletal muscle mass in mice by a new TGF-β superfamily member
    • McPherron AC, Lawler AM, Lee SJ. Regulation of skeletal muscle mass in mice by a new TGF-β superfamily member. Nature 1997; 387: 83-90.
    • (1997) Nature , vol.387 , pp. 83-90
    • McPherron, A.C.1    Lawler, A.M.2    Lee, S.J.3
  • 85
    • 34848912839 scopus 로고    scopus 로고
    • Sprinting without myostatin: A genetic determinant of athletic prowess
    • Lee S-J. Sprinting without myostatin: a genetic determinant of athletic prowess. Trends Genet 2007; 23: 475-477
    • (2007) Trends Genet , vol.23 , pp. 475-477
    • Lee, S.-J.1
  • 87
    • 8444243360 scopus 로고    scopus 로고
    • Regulation of muscle mass by myostatin
    • Lee SJ. Regulation of muscle mass by myostatin. Annu Rev Cell Dev Biol 2004; 20: 61-86.
    • (2004) Annu Rev Cell Dev Biol , vol.20 , pp. 61-86
    • Lee, S.J.1
  • 89
    • 41149152962 scopus 로고    scopus 로고
    • Myostatin propeptide gene delivery by adeno-associated virus serotype 8 vectors enhances muscle growth and ameliorates dystrophic phenotypes in mdx mice
    • Qiao C, Li J, Jiang J, Zhu X, Wang B, Li J, et al. Myostatin propeptide gene delivery by adeno-associated virus serotype 8 vectors enhances muscle growth and ameliorates dystrophic phenotypes in mdx mice. Hum Gene Ther 2008; 19: 241-254
    • (2008) Hum Gene Ther , vol.19 , pp. 241-254
    • Qiao, C.1    Li, J.2    Jiang, J.3    Zhu, X.4    Wang, B.5    Li, J.6
  • 91
    • 44149119111 scopus 로고    scopus 로고
    • Inhibiting myostatin with follistatin improves the success of myoblast transplantation in dystrophic mice
    • Benabdallah BF, Bouchentouf M, Rousseau J, Bigey P, Michaud A, Chapdelaine P, et al Inhibiting myostatin with follistatin improves the success of myoblast transplantation in dystrophic mice. Cell Transplant 2008; 17(3): 337-350
    • (2008) Cell Transplant , vol.17 , Issue.3 , pp. 337-350
    • Benabdallah, B.F.1    Bouchentouf, M.2    Rousseau, J.3    Bigey, P.4    Michaud, A.5    Chapdelaine, P.6
  • 92
    • 0023571274 scopus 로고
    • Inhibition of skeletal muscle satellite cell differentiation by transforming growth factor-β
    • Allen RE, Boxhorn LK. Inhibition of skeletal muscle satellite cell differentiation by transforming growth factor-β. J Cell Physiol 1987; 1987: 576-582
    • (1987) J Cell Physiol , vol.1987 , pp. 576-582
    • Allen, R.E.1    Boxhorn, L.K.2
  • 93
    • 1242293760 scopus 로고    scopus 로고
    • Transforming growth factorbeta1 induces the differentiation of myogenic cells into fibrotic cells in injured skeletal muscle: A key event in muscle fibrogenesis
    • Li Y, Foster W, Deasy BM, Chan Y, Prisk V, Tang Y, et al. Transforming growth factorbeta1 induces the differentiation of myogenic cells into fibrotic cells in injured skeletal muscle: a key event in muscle fibrogenesis. Am J Pathol 2004; 164: 1007-1019
    • (2004) Am J Pathol , vol.164 , pp. 1007-1019
    • Li, Y.1    Foster, W.2    Deasy, B.M.3    Chan, Y.4    Prisk, V.5    Tang, Y.6
  • 94
    • 0022977185 scopus 로고
    • Regulation of myogenic differentiation by type β transforming growth factor
    • Olson EN, Sternberg E, Hu JS, Spizz G, Wilcox C, et al. Regulation of myogenic differentiation by type β transforming growth factor. J Cell Biol 1986; 103: 1799-1805
    • (1986) J Cell Biol , vol.103 , pp. 1799-1805
    • Olson, E.N.1    Sternberg, E.2    Hu, J.S.3    Spizz, G.4    Wilcox, C.5
  • 95
    • 0029153067 scopus 로고
    • Expression of transforming growth factor-beta1 in dystrophic patient muscles correlates with fibrosis
    • Bernasconi P, Torchiana E, Confalonieri P, Brugnoni R, Barresi R, Mora M, et al. Expression of transforming growth factor-beta1 in dystrophic patient muscles correlates with fibrosis. J Clin Invest 1995; 96: 1137-1144
    • (1995) J Clin Invest , vol.96 , pp. 1137-1144
    • Bernasconi, P.1    Torchiana, E.2    Confalonieri, P.3    Brugnoni, R.4    Barresi, R.5    Mora, M.6
  • 96
    • 25444505994 scopus 로고    scopus 로고
    • Early onset of inflammation and later involvement of TGFβ in Duchenne muscular dystrophy
    • Chen YW, Nagaraju K, Bakay M, McIntyre O, Rawat R, Shi R, et al. Early onset of inflammation and later involvement of TGFβ in Duchenne muscular dystrophy. Neurology 2005; 65: 826-834
    • (2005) Neurology , vol.65 , pp. 826-834
    • Chen, Y.W.1    Nagaraju, K.2    Bakay, M.3    McIntyre, O.4    Rawat, R.5    Shi, R.6
  • 97
    • 27644532724 scopus 로고    scopus 로고
    • Decorin and biglycan expression is differentially altered in several muscular dystrophies
    • Zanotti S, Negri T, Cappelletti C, Bernasconi P, Canioni E, Di Blasi C, et al. Decorin and biglycan expression is differentially altered in several muscular dystrophies. Brain 2005; 128: 2546-2555
    • (2005) Brain , vol.128 , pp. 2546-2555
    • Zanotti, S.1    Negri, T.2    Cappelletti, C.3    Bernasconi, P.4    Canioni, E.5    Di Blasi, C.6
  • 98
    • 33846946114 scopus 로고    scopus 로고
    • Angiotensin II type 1receptor blockade attenuates TGF-β-induced failure of muscle regeneration in multiple myopathic states
    • Cohn RD, van Erp C, Habashi JP, Soleimani AA, Klein EC, Lisi MT, et al. Angiotensin II type 1receptor blockade attenuates TGF-β-induced failure of muscle regeneration in multiple myopathic states. Nat Med 2007; 13: 204-210
    • (2007) Nat Med , vol.13 , pp. 204-210
    • Cohn, R.D.1    Van Erp, C.2    Habashi, J.P.3    Soleimani, A.A.4    Klein, E.C.5    Lisi, M.T.6
  • 101


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