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Volumn 10, Issue 1, 2014, Pages 24-31

Clinical and pathological features of Korean patients with DNM2-related centronuclear myopathy

Author keywords

Central nuclei; Centronuclear myopathy; DNM2; Internal nuclei; Muscle involvement; Sarcoplasmic strands

Indexed keywords


EID: 84892503172     PISSN: 17386586     EISSN: 20055013     Source Type: Journal    
DOI: 10.3988/jcn.2014.10.1.24     Document Type: Article
Times cited : (7)

References (19)
  • 1
    • 0013865106 scopus 로고
    • Myotubular myopathy. Persistence of fetal muscle in an adolescent boy
    • Spiro AJ, Shy GM, Gonatas NK. Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. Arch Neurol 1966;14:1-14.
    • (1966) Arch Neurol , vol.14 , pp. 1-14
    • Spiro, A.J.1    Shy, G.M.2    Gonatas, N.K.3
  • 2
    • 9044222886 scopus 로고    scopus 로고
    • A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
    • Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996; 13:175-182.
    • (1996) Nat Genet , vol.13 , pp. 175-182
    • Laporte, J.1    Hu, L.J.2    Kretz, C.3    Mandel, J.L.4    Kioschis, P.5    Coy, J.F.6
  • 4
    • 34548341774 scopus 로고    scopus 로고
    • Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
    • Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, et al. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 2007;39:1134-1139.
    • (2007) Nat Genet , vol.39 , pp. 1134-1139
    • Nicot, A.S.1    Toussaint, A.2    Tosch, V.3    Kretz, C.4    Wallgren-Pettersson, C.5    Iwarsson, E.6
  • 5
    • 78249290502 scopus 로고    scopus 로고
    • RYR1 mutations are a common cause of congenital myopathies with central nuclei
    • Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010;68:717-726.
    • (2010) Ann Neurol , vol.68 , pp. 717-726
    • Wilmshurst, J.M.1    Lillis, S.2    Zhou, H.3    Pillay, K.4    Henderson, H.5    Kress, W.6
  • 6
    • 20144366550 scopus 로고    scopus 로고
    • Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
    • Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet 2005;37:289-294.
    • (2005) Nat Genet , vol.37 , pp. 289-294
    • Züchner, S.1    Noureddine, M.2    Kennerson, M.3    Verhoeven, K.4    Claeys, K.5    de Jonghe, P.6
  • 9
    • 73349087213 scopus 로고    scopus 로고
    • Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis
    • Bitoun M, Durieux AC, Prudhon B, Bevilacqua JA, Herledan A, Sakanyan V, et al. Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis. Hum Mutat 2009; 30:1419-1427.
    • (2009) Hum Mutat , vol.30 , pp. 1419-1427
    • Bitoun, M.1    Durieux, A.C.2    Prudhon, B.3    Bevilacqua, J.A.4    Herledan, A.5    Sakanyan, V.6
  • 10
  • 11
    • 84865240323 scopus 로고    scopus 로고
    • Mutation spectrum in the large GTPase dynamin 2, and genotype- phenotype correlation in autosomal dominant centronuclear myopathy
    • Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, et al. Mutation spectrum in the large GTPase dynamin 2, and genotype- phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat 2012;33:949-959.
    • (2012) Hum Mutat , vol.33 , pp. 949-959
    • Böhm, J.1    Biancalana, V.2    Dechene, E.T.3    Bitoun, M.4    Pierson, C.R.5    Schaefer, E.6
  • 12
    • 80855156748 scopus 로고    scopus 로고
    • Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy
    • Koutsopoulos OS, Koch C, Tosch V, Böhm J, North KN, Laporte J. Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. PLoS One 2011;6:e27498.
    • (2011) PLoS One , vol.e27498 , pp. 6
    • Koutsopoulos, O.S.1    Koch, C.2    Tosch, V.3    Böhm, J.4    North, K.N.5    Laporte, J.6
  • 13
    • 33745082176 scopus 로고    scopus 로고
    • Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy
    • Fischer D, Herasse M, Bitoun M, Barragán-Campos HM, Chiras J, Laforêt P, et al. Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain 2006;129:1463-1469.
    • (2006) Brain , vol.129 , pp. 1463-1469
    • Fischer, D.1    Herasse, M.2    Bitoun, M.3    Barragán-Campos, H.M.4    Chiras, J.5    Laforêt, P.6
  • 14
    • 85013250259 scopus 로고    scopus 로고
    • Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort
    • Catteruccia M, Fattori F, Codemo V, Ruggiero L, Maggi L, Tasca G, et al. Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. Neuromuscul Disord 2013;23:229-238.
    • (2013) Neuromuscul Disord , vol.23 , pp. 229-238
    • Catteruccia, M.1    Fattori, F.2    Codemo, V.3    Ruggiero, L.4    Maggi, L.5    Tasca, G.6
  • 16
    • 79959834545 scopus 로고    scopus 로고
    • Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations
    • Hanisch F, Müller T, Dietz A, Bitoun M, Kress W, Weis J, et al. Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. J Neurol 2011;258:1085-1090.
    • (2011) J Neurol , vol.258 , pp. 1085-1090
    • Hanisch, F.1    Müller, T.2    Dietz, A.3    Bitoun, M.4    Kress, W.5    Weis, J.6
  • 17
    • 77950930695 scopus 로고    scopus 로고
    • Centronuclear myopathies: A widening concept
    • Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord 2010;20:223-228.
    • (2010) Neuromuscul Disord , vol.20 , pp. 223-228
    • Romero, N.B.1
  • 19
    • 84862023176 scopus 로고    scopus 로고
    • Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2
    • Mori-Yoshimura M, Okuma A, Oya Y, Fujimura-Kiyono C, Nakajima H, Matsuura K, et al. Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2. Clin Neurol Neurosurg 2012;114:678-683.
    • (2012) Clin Neurol Neurosurg , vol.114 , pp. 678-683
    • Mori-Yoshimura, M.1    Okuma, A.2    Oya, Y.3    Fujimura-Kiyono, C.4    Nakajima, H.5    Matsuura, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.