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Volumn 114, Issue 3, 2012, Pages 230-234

Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy

Author keywords

Atypical onset; Calpain; Epilepsy; FacioScapuloHumeral Muscular Dystrophy; Myoglobinuria

Indexed keywords

CALPAIN 3;

EID: 84857781461     PISSN: 03038467     EISSN: 18726968     Source Type: Journal    
DOI: 10.1016/j.clineuro.2011.10.022     Document Type: Article
Times cited : (41)

References (25)
  • 1
    • 66549122709 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy: Epidemiological and molecular study in a North-East Italian population sample
    • M.L. Mostacciuolo, E. Pastorello, G. Vazza, M. Miorin, C. Angelini, and C.P. Trevisan Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a North-East Italian population sample Clin Genet 75 2009 550 555
    • (2009) Clin Genet , vol.75 , pp. 550-555
    • Mostacciuolo, M.L.1    Pastorello, E.2    Vazza, G.3    Miorin, M.4    Angelini, C.5    Trevisan, C.P.6
  • 2
    • 70350690312 scopus 로고    scopus 로고
    • Prevalence of genetic muscle disease in Northern England: In-depth analysis of a muscle clinic population
    • F.L. Norwood, C. Harling, P.F. Chinnery, M. Eagle, K. Bushby, and V. Straub Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population Brain 132 2009 3175 3186
    • (2009) Brain , vol.132 , pp. 3175-3186
    • Norwood, F.L.1    Harling, C.2    Chinnery, P.F.3    Eagle, M.4    Bushby, K.5    Straub, V.6
  • 3
    • 70349664564 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy
    • G.W. Padberg, and B.G. van Engelen Facioscapulohumeral muscular dystrophy Curr Opin Neurol 22 2009 539 542
    • (2009) Curr Opin Neurol , vol.22 , pp. 539-542
    • Padberg, G.W.1    Van Engelen, B.G.2
  • 4
    • 0025160101 scopus 로고
    • Location of facioscapulohumeral muscular dystrophy gene on chromosome 4
    • DOI 10.1016/0140-6736(90)92148-B
    • C. Wijmenga, R.R. Frants, O.F. Brouwer, P. Moerer, J.L. Weber, and G.W. Padberg Location of facioscapulohumeral muscular dystrophy gene on chromosome 4 Lancet 336 1990 651 653 (Pubitemid 20288865)
    • (1990) Lancet , vol.336 , Issue.8716 , pp. 651-653
    • Wijmenga, C.1    Frants, R.R.2    Brouwer, O.F.3    Moerer, P.4    Weber, J.L.5    Padberg, G.W.6
  • 6
    • 33745715007 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy
    • R. Tawil, and S.M. van der Maarel Facioscapulohumeral muscular dystrophy Muscle Nerve 34 2006 1 15
    • (2006) Muscle Nerve , vol.34 , pp. 1-15
    • Tawil, R.1    Van Der Maarel, S.M.2
  • 8
    • 0035114546 scopus 로고    scopus 로고
    • Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion
    • DOI 10.1002/1097-4598(200103)24:3<352::AID-MUS1005>3.0.CO;2-M
    • K.J. Felice, and S.A. Moore Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion Muscle Nerve 24 2001 352 356 (Pubitemid 32172710)
    • (2001) Muscle and Nerve , vol.24 , Issue.3 , pp. 352-356
    • Felice, K.J.1    Moore, S.A.2
  • 9
    • 0036837607 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement
    • A. Uncini, G. Galluzzi, A. Di Muzio, M.V. De Angelis, E. Ricci, and C. Scoppetta Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement Neuromuscul Disord 12 2002 874 877
    • (2002) Neuromuscul Disord , vol.12 , pp. 874-877
    • Uncini, A.1    Galluzzi, G.2    Di Muzio, A.3    De Angelis, M.V.4    Ricci, E.5    Scoppetta, C.6
  • 10
    • 0041379846 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy: Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers
    • DOI 10.1007/s00415-003-1116-y
    • M. Butz, M.C. Koch, W. Muller-Felber, R.J. Lemmers, S.M. van der Maarel, and H. Schreiber Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers J Neurol 250 2003 932 937 (Pubitemid 37041023)
    • (2003) Journal of Neurology , vol.250 , Issue.8 , pp. 932-937
    • Butz, M.1    Koch, M.C.2    Muller-Felber, W.3    Lemmers, R.J.L.F.4    Van Der Maarel, S.M.5    Schreiber, H.6
  • 11
    • 0141924432 scopus 로고    scopus 로고
    • Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion
    • DOI 10.1001/archneur.60.10.1421
    • M. Krasnianski, K. Eger, S. Neudecker, S. Jakubiczka, and S. Zierz Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion Arch Neurol 60 2003 1421 1425 (Pubitemid 37248804)
    • (2003) Archives of Neurology , vol.60 , Issue.10 , pp. 1421-1425
    • Krasnianski, M.1    Eger, K.2    Neudecker, S.3    Jakubiczka, S.4    Zierz, S.5
  • 13
    • 1642377315 scopus 로고    scopus 로고
    • Molecular basis of facioscapulohumeral muscular dystrophy
    • DOI 10.1007/s00018-003-3285-3
    • R. Tupler, and D. Gabellini Molecular basis of facioscapulohumeral muscular dystrophy Cell Mol Life Sci 61 2004 557 566 (Pubitemid 38372910)
    • (2004) Cellular and Molecular Life Sciences , vol.61 , Issue.5 , pp. 557-566
    • Tupler, R.1    Gabellini, D.2
  • 16
    • 0028930856 scopus 로고
    • On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy
    • G.W. Padberg, O.F. Brouwer, R.J.W. de Keizer, G. Dijkman, C. Wijmenga, and J.J. Grote On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy Muscle Nerve 2 1995 S73 S80
    • (1995) Muscle Nerve , vol.2
    • Padberg, G.W.1    Brouwer, O.F.2    De Keizer, R.J.W.3    Dijkman, G.4    Wijmenga, C.5    Grote, J.J.6
  • 17
    • 0031777331 scopus 로고    scopus 로고
    • Epilepsy and mental retardation in a subset of early onset 4q35- facioscapulohumeral muscular dystrophy
    • M. Funakoshi, K. Goto, and K. Arahata Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy Neurology 50 1998 1791 1794 (Pubitemid 28283253)
    • (1998) Neurology , vol.50 , Issue.6 , pp. 1791-1794
    • Funakoshi, M.1    Goto, K.2    Arahata, K.3
  • 20
    • 77954035380 scopus 로고    scopus 로고
    • Van Engelen BG.171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy
    • R. Tawil, S. van der Maarel, and G.W. Padberg van Engelen BG.171st ENMC International Workshop: standards of care and management of facioscapulohumeral muscular dystrophy Neuromuscul Disord 20 2010 471 475
    • (2010) Neuromuscul Disord , vol.20 , pp. 471-475
    • Tawil, R.1    Van Der Maarel, S.2    Padberg, G.W.3
  • 23
    • 0001968110 scopus 로고
    • The muscular dystrophies
    • J. Walton, G. Karpati, D. Hilton-Jones, Churchill Linvingstone Edinburgh, UK
    • D. Gardner-Medwin, and J. Walton The muscular dystrophies J. Walton, G. Karpati, D. Hilton-Jones, Disorders of voluntary muscle 1994 Churchill Linvingstone Edinburgh, UK 543 594
    • (1994) Disorders of Voluntary Muscle , pp. 543-594
    • Gardner-Medwin, D.1    Walton, J.2
  • 24
    • 84857790478 scopus 로고    scopus 로고
    • The clinical assessment and a guide to classification of the myopathies
    • G. Karpati, Cambridge University Press Cambridge, UK
    • D. Hilton-Jones, and J.T. Kissel The clinical assessment and a guide to classification of the myopathies G. Karpati, Disorders of voluntary muscle 2010 Cambridge University Press Cambridge, UK 163 195
    • (2010) Disorders of Voluntary Muscle , pp. 163-195
    • Hilton-Jones, D.1    Kissel, J.T.2
  • 25
    • 56049098801 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy: Hearing loss and other atypical features of patients with large 4q35 deletions
    • C.P. Trevisan, E. Pastorello, G. Tomelleri, L. Vercelli, C. Bruno, and S. Scapolan Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions Eur J Neurol 15 2008 1353 1358
    • (2008) Eur J Neurol , vol.15 , pp. 1353-1358
    • Trevisan, C.P.1    Pastorello, E.2    Tomelleri, G.3    Vercelli, L.4    Bruno, C.5    Scapolan, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.