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Volumn 351, Issue 1-2, 2015, Pages 120-123

Adult onset limb-girdle muscular dystrophy - A recessive titinopathy masquerading as myositis

Author keywords

Keywords Titin LGMD2J Muscular dystrophy Inflammatory myopathy

Indexed keywords

IMMUNOMODULATING AGENT; MUSCLE PROTEIN; CONNECTIN; TTN PROTEIN, HUMAN;

EID: 84926407754     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2015.03.001     Document Type: Article
Times cited : (10)

References (24)
  • 1
    • 0036723943 scopus 로고    scopus 로고
    • Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
    • P. Hackman, A. Vihola, H. Haravuori, S. Marchand, J. Sarparanta, and J. de Seza Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin Am J Hum Genet 71 2002 492 500
    • (2002) Am J Hum Genet , vol.71 , pp. 492-500
    • Hackman, P.1    Vihola, A.2    Haravuori, H.3    Marchand, S.4    Sarparanta, J.5    De Seza, J.6
  • 2
    • 0026005315 scopus 로고
    • Molecular dystrophy with separate clinical phenotypes in a large family
    • B. Udd, H. Kääriäinen, and H. Somer Molecular dystrophy with separate clinical phenotypes in a large family Muscle Nerve 14 1991 1050 1058
    • (1991) Muscle Nerve , vol.14 , pp. 1050-1058
    • Udd, B.1    Kääriäinen, H.2    Somer, H.3
  • 3
    • 0027278526 scopus 로고
    • Tibial muscular dystrophy - Late adult-onset distal myopathy in 66 Finnish patients
    • B. Udd, J. Partanen, P. Halonen, B. Falck, L. Hakamies, and H. Heikkilä Tibial muscular dystrophy - late adult-onset distal myopathy in 66 Finnish patients Arch Neurol 50 1993 604 608
    • (1993) Arch Neurol , vol.50 , pp. 604-608
    • Udd, B.1    Partanen, J.2    Halonen, P.3    Falck, B.4    Hakamies, L.5    Heikkilä, H.6
  • 4
    • 13844311060 scopus 로고    scopus 로고
    • Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J
    • B. Udd, A. Vihola, J. Sarparanta, I. Richard, and P. Hackman Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J Neurology 64 2005 636 642
    • (2005) Neurology , vol.64 , pp. 636-642
    • Udd, B.1    Vihola, A.2    Sarparanta, J.3    Richard, I.4    Hackman, P.5
  • 5
    • 0036478897 scopus 로고    scopus 로고
    • Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
    • B. Gerull, M. Gramlich, J. Atherton, M. McNabb, K. Trombitàs, and S. Sasse-Klaassen Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy Nat Genet 30 2002 201 204
    • (2002) Nat Genet , vol.30 , pp. 201-204
    • Gerull, B.1    Gramlich, M.2    Atherton, J.3    McNabb, M.4    Trombitàs, K.5    Sasse-Klaassen, S.6
  • 8
    • 20644440418 scopus 로고    scopus 로고
    • The kinase domain of titin controls muscle gene expression and protein turnover
    • S. Lange, F. Xiang, A. Yakovenko, A. Vihola, P. Hackman, and E. Rostkova The kinase domain of titin controls muscle gene expression and protein turnover Science 308 2005 1599 1603
    • (2005) Science , vol.308 , pp. 1599-1603
    • Lange, S.1    Xiang, F.2    Yakovenko, A.3    Vihola, A.4    Hackman, P.5    Rostkova, E.6
  • 10
    • 84861563537 scopus 로고    scopus 로고
    • Hereditary myopathy with early respiratory failure associated with mutation in A-band titin
    • M. Ohlsson, C. Hedberg, B. Brådvik, C. Lindberg, H. Tajsharghi, and O. Danielsson Hereditary myopathy with early respiratory failure associated with mutation in A-band titin Brain 135 2012 1682 1694
    • (2012) Brain , vol.135 , pp. 1682-1694
    • Ohlsson, M.1    Hedberg, C.2    Brådvik, B.3    Lindberg, C.4    Tajsharghi, H.5    Danielsson, O.6
  • 11
    • 84861557324 scopus 로고    scopus 로고
    • Titin mutation segregates with hereditary myopathy with early respiratory failure
    • G. Pfeffer, H.R. Elliott, H. Griffin, R. Barresi, J. Miller, and J. Marsh Titin mutation segregates with hereditary myopathy with early respiratory failure Brain 135 pt6 2012 1695 1713
    • (2012) Brain , vol.135 , pp. 1695-1713
    • Pfeffer, G.1    Elliott, H.R.2    Griffin, H.3    Barresi, R.4    Miller, J.5    Marsh, J.6
  • 13
    • 84892953505 scopus 로고    scopus 로고
    • Recessive TTN truncating mutations define novel forms of core myopathy with heart disease
    • C. Chauveau, C.G. Bonnemann, C. Julien, A.L. Kho, H. Marks, and B. Talim Recessive TTN truncating mutations define novel forms of core myopathy with heart disease Hum Mol Genet 23 2014 980 991
    • (2014) Hum Mol Genet , vol.23 , pp. 980-991
    • Chauveau, C.1    Bonnemann, C.G.2    Julien, C.3    Kho, A.L.4    Marks, H.5    Talim, B.6
  • 15
    • 0031647195 scopus 로고    scopus 로고
    • The first European family with tibial muscular dystrophy outside the Finnish population
    • J. de Seze, B. Udd, H. Haravouri, B. Sablonnière, C.A. Maurage, and J.F. Hurtevent The first European family with tibial muscular dystrophy outside the Finnish population Neurology 51 1998 1746 1748
    • (1998) Neurology , vol.51 , pp. 1746-1748
    • De Seze, J.1    Udd, B.2    Haravouri, H.3    Sablonnière, B.4    Maurage, C.A.5    Hurtevent, J.F.6
  • 17
    • 77951253245 scopus 로고    scopus 로고
    • The first Italian family with tibial muscular dystrophy caused by a novel titin mutation
    • T. Suominen, S. Penttilä, A. Malandrini, M.A. Carluccio, and M. Mondelli The first Italian family with tibial muscular dystrophy caused by a novel titin mutation J Neurol 257 2010 575 579
    • (2010) J Neurol , vol.257 , pp. 575-579
    • Suominen, T.1    Penttilä, S.2    Malandrini, A.3    Carluccio, M.A.4    Mondelli, M.5
  • 20
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • 1000 Genomes Project Consortium A map of human genome variation from population-scale sequencing Nature 467 2010 1061 1073
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 22
    • 0035846620 scopus 로고    scopus 로고
    • Inflammation in dysferlin myopathy: Immunohistochemical characterization of 13 patients
    • E. Gallardo, R. Rojas-Garcia, N. de Luna, A. Pou, R.H. Brown Jr., and I. Illa Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients Neurology 57 2001 2136 2138
    • (2001) Neurology , vol.57 , pp. 2136-2138
    • Gallardo, E.1    Rojas-Garcia, R.2    De Luna, N.3    Pou, A.4    Brown, Jr.R.H.5    Illa, I.6
  • 23
    • 0028094533 scopus 로고
    • Facioscapulohumeral dystrophy: The role of inflammation
    • R.B. Fitzsimons Facioscapulohumeral dystrophy: the role of inflammation Lancet 344 1994 902 903
    • (1994) Lancet , vol.344 , pp. 902-903
    • Fitzsimons, R.B.1
  • 24
    • 0346219378 scopus 로고    scopus 로고
    • A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation
    • S. Krause, B. Schlotter-Weigel, M.C. Walter, H. Najmabadi, H. Wiendl, and J. Müller-Höcker A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation Neuromuscul Disord 13 2003 830 834
    • (2003) Neuromuscul Disord , vol.13 , pp. 830-834
    • Krause, S.1    Schlotter-Weigel, B.2    Walter, M.C.3    Najmabadi, H.4    Wiendl, H.5    Müller-Höcker, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.