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Volumn 19, Issue 6, 2013, Pages 1509-1534

Congenital muscular dystrophies and congenital myopathies

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTIN; ALPHA ACTIN 1; ALPHA DYSTROGLYCAN; COLLAGEN TYPE 6; CREATINE KINASE; MEROSIN; UNCLASSIFIED DRUG;

EID: 84890502235     PISSN: 10802371     EISSN: 15386899     Source Type: Journal    
DOI: 10.1212/01.CON.0000440658.03557.f1     Document Type: Review
Times cited : (20)

References (44)
  • 1
    • 0028232215 scopus 로고
    • Congenital muscular dystrophy with merosin deficiency
    • Tome FM, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. CRAcad Sci III 1994;317(4): 351-357.
    • (1994) CRAcad Sci III , vol.317 , Issue.4 , pp. 351-357
    • Tome, F.M.1    Evangelista, T.2    Leclerc, A.3
  • 2
    • 84860596035 scopus 로고    scopus 로고
    • Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001-2008
    • Clement EM, Feng L, Mein R, et al. Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001-2008. Neuromuscul Disord 2012;22(6):522-527.
    • (2012) Neuromuscul Disord , vol.22 , pp. 6522-6527
    • Clement, E.M.1    Feng, L.2    Mein, R.3
  • 3
    • 67649277486 scopus 로고    scopus 로고
    • Diagnosis and etiology of congenitalmuscular dystrophy
    • Peat RA, Smith JM, Compton AG, et al. Diagnosis and etiology of congenitalmuscular dystrophy. Neurology 2008;71(5):312-321.
    • (2008) Neurology , vol.71 , Issue.5 , pp. 312-321
    • Peat, R.A.1    Smith, J.M.2    Compton, A.G.3
  • 4
    • 34548459740 scopus 로고    scopus 로고
    • Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan
    • Okada M, Kawahara G, Noguchi S, et al. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology 2007;69(10):1035-1042.
    • (2007) Neurology , vol.69 , Issue.10 , pp. 1035-1042
    • Okada, M.1    Kawahara, G.2    Noguchi, S.3
  • 5
    • 77950960625 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
    • Geranmayeh F, Clement E, Feng LH, et al. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord 2010;20(4):241-250.
    • (2010) Neuromuscul Disord , vol.20 , Issue.4 , pp. 241-250
    • Geranmayeh, F.1    Clement, E.2    Feng, L.H.3
  • 6
    • 84863878721 scopus 로고    scopus 로고
    • Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency
    • Pane M, Messina S, Vasco G, et al. Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscul Disord 2012;22(8):685-689.
    • (2012) Neuromuscul Disord , vol.22 , Issue.8 , pp. 685-689
    • Pane, M.1    Messina, S.2    Vasco, G.3
  • 7
    • 79959642268 scopus 로고    scopus 로고
    • SEPN1-related myopathies: Clinical course in a large cohort of patients
    • Scoto M, Cirak S, Mein R, et al. SEPN1-related myopathies: Clinical course in a large cohort of patients. Neurology 2011;76(24): 2073-2078.
    • (2011) Neurology , vol.76 , Issue.24 , pp. 2073-2078
    • Scoto, M.1    Cirak, S.2    Mein, R.3
  • 8
    • 84874692333 scopus 로고    scopus 로고
    • Muscular dystrophies
    • Mercuri E, Muntoni F. Muscular dystrophies. Lancet 2013;381(9869):845- 860.
    • (2013) Lancet , vol.381 , Issue.9869 , pp. 845-860
    • Mercuri, E.1    Muntoni, F.2
  • 10
    • 4444234437 scopus 로고    scopus 로고
    • The congenital muscular dystrophies in 2004: A century of exciting progress
    • Muntoni F, Voit T. The congenital muscular dystrophies in 2004: A century of exciting progress. Neuromuscul Disord 2004;14(10): 635-649.
    • (2004) Neuromuscul Disord , vol.14 , Issue.10 , pp. 635-649
    • Muntoni, F.1    Voit, T.2
  • 11
    • 84890543226 scopus 로고    scopus 로고
    • GeneTable of neuromuscular disorders
    • Updated January 9, 2013. Accessed July 30, 2013
    • Kaplan J-C. GeneTable of neuromuscular disorders. World Muscle Society. www.musclegenetable.fr. Updated January 9, 2013. Accessed July 30, 2013.
    • World Muscle Society
    • Kaplan, J.-C.1
  • 12
    • 0032958065 scopus 로고    scopus 로고
    • Merosin-deficient congenital muscular dystrophy: The spectrum of brain involvement on magnetic resonance imaging
    • Philpot J, Cowan F, Pennock J, et al. Merosin-deficient congenital muscular dystrophy: The spectrum of brain involvement on magnetic resonance imaging. Neuromuscul Disord 1999;9(2):81-85.
    • (1999) Neuromuscul Disord , vol.9 , Issue.2 , pp. 81-85
    • Philpot, J.1    Cowan, F.2    Pennock, J.3
  • 13
    • 0021221663 scopus 로고
    • A genetic study of the Fukuyama type congenital muscular dystrophy
    • Fukuyama Y, Osawa M. A genetic study of the Fukuyama type congenital muscular dystrophy. Brain Dev 1984;6(4):373-390.
    • (1984) Brain Dev , vol.6 , Issue.4 , pp. 373-390
    • Fukuyama, Y.1    Osawa, M.2
  • 14
    • 0034162666 scopus 로고    scopus 로고
    • The Fukuyama congenital muscular dystrophy story
    • Toda T, Kobayashi K, Kondo-Iida E, et al. The Fukuyama congenital muscular dystrophy story. Neuromuscul Disord 2000;10(3):153-159.
    • (2000) Neuromuscul Disord , vol.10 , Issue.3 , pp. 153-159
    • Toda, T.1    Kobayashi, K.2    Kondo-Iida, E.3
  • 15
    • 0020605252 scopus 로고
    • Ocular manifestations of congenital muscular dystrophy (Fukuyama type)
    • Chijiiwa T, Nishimura M, Inomata EI, et al. Ocular manifestations of congenital muscular dystrophy (Fukuyama type). Ann Ophthalmol 1983;15(10):921-928.
    • (1983) Ann Ophthalmol , vol.15 , Issue.10 , pp. 921-928
    • Chijiiwa, T.1    Nishimura, M.2    Inomata, E.I.3
  • 16
    • 0025970482 scopus 로고
    • MR imaging of the brain in Fukuyama-type congenital muscular dystrophy
    • Yoshioka M, Saiwai S, Kuroki S, Nigami H. MR imaging of the brain in Fukuyama-type congenital muscular dystrophy. AJNR Am J Neuroradiol 1991;12(1):63-65.
    • (1991) AJNR Am J Neuroradiol , vol.12 , Issue.1 , pp. 63-65
    • Yoshioka, M.1    Saiwai, S.2    Kuroki, S.3    Nigami, H.4
  • 17
    • 33745310936 scopus 로고    scopus 로고
    • Cardiac involvement in Fukuyama-type congenital muscular dystrophy
    • Nakanishi T, Sakauchi M, Kaneda Y, et al. Cardiac involvement in Fukuyama-type congenital muscular dystrophy. Pediatrics 2006;117(6):e1187Ye1192.
    • (2006) Pediatrics , vol.117 , Issue.6
    • Nakanishi, T.1    Sakauchi, M.2    Kaneda, Y.3
  • 18
    • 0001478427 scopus 로고
    • A new congenital non-progressive myopathy
    • Magee KR, Shy GM. A new congenital non-progressive myopathy. Brain 1956;79(4):610-621.
    • (1956) Brain , vol.79 , Issue.4 , pp. 610-621
    • Magee, K.R.1    Shy, G.M.2
  • 19
    • 85027947938 scopus 로고    scopus 로고
    • Congenital myopathiesVclinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
    • Maggie L, Scoto M, Cirak S, et al. Congenital myopathiesVclinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul Disord 2013;23(3):195-205.
    • (2013) Neuromuscul Disord , vol.23 , Issue.3 , pp. 195-205
    • Maggie, L.1    Scoto, M.2    Cirak, S.3
  • 20
    • 84855404652 scopus 로고    scopus 로고
    • Prevalence of congenital myopathies in a representative pediatric united states population
    • Amburgey K, McNamara N, Bennet LR, et al. Prevalence of congenital myopathies in a representative pediatric United States population. Ann Neurol 2011;70(4): 662-665.
    • (2011) Ann Neurol , vol.70 , Issue.4 , pp. 662-665
    • Amburgey, K.1    McNamara, N.2    Bennet, L.R.3
  • 21
    • 70350690312 scopus 로고    scopus 로고
    • Prevalence of genetic muscle disease on Northern England: In-depth analysis of a muscle clinic population
    • Norwood FL, Harling C, Chinnery PF, et al. Prevalence of genetic muscle disease on Northern England: In-depth analysis of a muscle clinic population. Brain 2009;132 (pt 11):3175-3186.
    • (2009) Brain , vol.132 , Issue.PART 11 , pp. 3175-3186
    • Norwood, F.L.1    Harling, C.2    Chinnery, P.F.3
  • 22
    • 0032743263 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
    • Wallgren-Pettersson C, Pelin K, Hilpela P, et al. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromusc Disord 1999;9(8):564-572.
    • (1999) Neuromusc Disord , vol.9 , Issue.8 , pp. 564-572
    • Wallgren-Pettersson, C.1    Pelin, K.2    Hilpela, P.3
  • 23
    • 58849125703 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies
    • Feng JJ, Marston S. Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. Neuromuscul Disord 2009;19(1):6-16.
    • (2009) Neuromuscul Disord , vol.19 , Issue.1 , pp. 6-16
    • Feng, J.J.1    Marston, S.2
  • 24
    • 46149104744 scopus 로고    scopus 로고
    • What's new in congenital myopathies
    • North K. What's new in congenital myopathies Neuromuscul Disord 2008;18(6):433-442.
    • (2008) Neuromuscul Disord , vol.18 , Issue.6 , pp. 433-442
    • North, K.1
  • 26
    • 0001313262 scopus 로고
    • Nemaline myopathy: A new congenital myopathy
    • Shy GM, Engel WK, Somers JE, Wanko T. Nemaline myopathy: A new congenital myopathy. Brain 1963;86:793-810.
    • (1963) Brain , vol.86 , pp. 793-810
    • Shy, G.M.1    Engel, W.K.2    Somers, J.E.3    Wanko, T.4
  • 27
    • 0029317232 scopus 로고
    • A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1
    • Laing NG, Wilton SD. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet 1995;10(2):249.
    • (1995) Nat Genet , vol.10 , Issue.2 , pp. 249
    • Laing, N.G.1    Wilton, S.D.2
  • 28
    • 0034848843 scopus 로고    scopus 로고
    • Nemaline myopathy: A clinical study of 143 cases
    • Ryan MM, Schnell C, Strickland CD, et al. Nemaline myopathy: A clinical study of 143 cases. Ann Neurol 2001;50(3):312-320.
    • (2001) Ann Neurol , vol.50 , Issue.3 , pp. 312-320
    • Ryan, M.M.1    Schnell, C.2    Strickland, C.D.3
  • 29
    • 0013930578 scopus 로고
    • The fine structure of the rod-like bodies in nemaline myopathy and their relation to the Z-discs
    • Gonatas NK. The fine structure of the rod-like bodies in nemaline myopathy and their relation to the Z-discs. J Neuropathol Exp Neurol 1966;25(3):409-421.
    • (1966) J Neuropathol Exp Neurol , vol.25 , Issue.3 , pp. 409-421
    • Gonatas, N.K.1
  • 31
    • 13044312720 scopus 로고    scopus 로고
    • Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
    • Pelin K, Hilpela P, Donner K, et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A 1999;96(5):2305-2310.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , Issue.5 , pp. 2305-2310
    • Pelin, K.1    Hilpela, P.2    Donner, K.3
  • 32
    • 0042071493 scopus 로고    scopus 로고
    • Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)
    • Sparrow JC, Nowak KJ, Durling HJ, et al. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord 2003;13(7-8):519-531.
    • (2003) Neuromuscul Disord , vol.13 , Issue.7-8 , pp. 519-531
    • Sparrow, J.C.1    Nowak, K.J.2    Durling, H.J.3
  • 33
    • 0032858915 scopus 로고    scopus 로고
    • Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
    • Nowak KJ, Wattanasirichaigoon D, Goebel HH, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 1999;23(2):208-212.
    • (1999) Nat Genet , vol.23 , Issue.2 , pp. 208-212
    • Nowak, K.J.1    Wattanasirichaigoon, D.2    Goebel, H.H.3
  • 34
    • 0002698066 scopus 로고
    • Oxidative enzymes and phosphorylase in central-core disease of muscle
    • Dubowitz V, Pearse AG. Oxidative enzymes and phosphorylase in central-core disease of muscle. Lancet 1960;2(7140):23-24.
    • (1960) Lancet , vol.2 , Issue.7140 , pp. 23-24
    • Dubowitz, V.1    Pearse, A.G.2
  • 35
    • 67349228165 scopus 로고    scopus 로고
    • Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
    • Jungbluth H, Lillis S, Zhou H, et al. Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 2009;19(5):344-347.
    • (2009) Neuromuscul Disord , vol.19 , Issue.5 , pp. 344-347
    • Jungbluth, H.1    Lillis, S.2    Zhou, H.3
  • 36
    • 0018706258 scopus 로고
    • Central core disease: Clinical and pathological evidence of progression within a family
    • Patterson VH, Hill TR, Fletcher PJ, Heron Jr. Central core disease: Clinical and pathological evidence of progression within a family. Brain 1979;102(3):581-594.
    • (1979) Brain , vol.102 , Issue.3 , pp. 581-594
    • Patterson, V.H.1    Hill, T.R.2    Fletcher, P.J.3    Heron, J.R.4
  • 37
    • 17144463714 scopus 로고    scopus 로고
    • Minicore myopathy in children: A clinical and histopathological study of 19 cases
    • Jungbluth H, Sewry C, Brown SC, et al. Minicore myopathy in children: A clinical and histopathological study of 19 cases. Neuromuscul Disord 2000;10(4-5):264-273.
    • (2000) Neuromuscul Disord , vol.10 , Issue.4-5 , pp. 264-273
    • Jungbluth, H.1    Sewry, C.2    Brown, S.C.3
  • 38
    • 0033757859 scopus 로고    scopus 로고
    • Multi-minicore diseaseVsearching for boundaries: Phenotype analysis of 38 cases
    • Ferreiro A, Estournet B, Chateau D, et al. Multi-minicore diseaseVsearching for boundaries: Phenotype analysis of 38 cases. Ann Neurol 2000;48(5):745-757.
    • (2000) Ann Neurol , vol.48 , Issue.5 , pp. 745-757
    • Ferreiro, A.1    Estournet, B.2    Chateau, D.3
  • 39
    • 19044375929 scopus 로고    scopus 로고
    • Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: Reassessing the nosology of early-onset myopathies
    • Ferreiro A, Quijano-Roy S, Pichereau C, et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: Reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002;71(4):739-749.
    • (2002) Am J Hum Genet , vol.71 , Issue.4 , pp. 739-749
    • Ferreiro, A.1    Quijano-Roy, S.2    Pichereau, C.3
  • 40
    • 0034111385 scopus 로고    scopus 로고
    • Multicore myopathy: Respiratory failure and paraspinal muscle contractures are important complications
    • Rowe PW, Eagle M, Pollitt C, et al. Multicore myopathy: Respiratory failure and paraspinal muscle contractures are important complications. Dev Med Child Neurol 2000;42(5):340-343.
    • (2000) Dev Med Child Neurol , vol.42 , Issue.5 , pp. 340-343
    • Rowe, P.W.1    Eagle, M.2    Pollitt, C.3
  • 41
    • 77950930695 scopus 로고    scopus 로고
    • Centronuclear myopathies: A widening concept
    • Romero B. Centronuclear myopathies: A widening concept. Neuromuscul Disord 2010;20(4):223-228.
    • (2010) Neuromuscul Disord , vol.20 , Issue.4 , pp. 223-228
    • Romero, B.1
  • 42
    • 0032986873 scopus 로고    scopus 로고
    • Medical complications in long-term survivors with X-linked myotubular myopathy
    • Herman GE, Finegold M. Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr 1999;134(2):206.
    • (1999) J Pediatr , vol.134 , Issue.2 , pp. 206
    • Herman, G.E.1    Finegold, M.2
  • 43
    • 79952726193 scopus 로고    scopus 로고
    • Congenital fibre type disproportionVa syndrome at the crossroads of the congenital myopathies
    • Clarke NF. Congenital fibre type disproportionVa syndrome at the crossroads of the congenital myopathies. Neuromuscul Disord 2011;21(4):252-253.
    • (2011) Neuromuscul Disord , vol.21 , Issue.4 , pp. 252-253
    • Clarke, N.F.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.