메뉴 건너뛰기




Volumn 260, Issue 8, 2013, Pages 2033-2041

Clinical phenotype, muscle MRI and muscle pathology of LGMD1F

Author keywords

Clinical phenotype; LGMD1F; Limb girdle muscular dystrophy; Muscle MRI

Indexed keywords

CYTOSKELETON PROTEIN; MUSCLE RING FINGER 1 PROTEIN;

EID: 84881553233     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-6931-1     Document Type: Article
Times cited : (26)

References (13)
  • 1
    • 0035957073 scopus 로고    scopus 로고
    • Autosomal dominant limb-girdle muscular dystrophy: A large kindred with evidence for anticipation
    • 11222786 10.1212/WNL.56.4.450 1:STN:280:DC%2BD3M7ps1Khsw%3D%3D
    • Gamez J, Navarro C, Andreu AL et al (2001) Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation. Neurology 56:450-454
    • (2001) Neurology , vol.56 , pp. 450-454
    • Gamez, J.1    Navarro, C.2    Andreu, A.L.3
  • 2
    • 10744227162 scopus 로고    scopus 로고
    • A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2
    • 12913210 10.1212/01.WNL.0000073984.46546.4F 1:CAS:528: DC%2BD3sXlslGkur4%3D
    • Palenzuela L, Andreu AL, Gamez J et al (2003) A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology 61:404-406
    • (2003) Neurology , vol.61 , pp. 404-406
    • Palenzuela, L.1    Andreu, A.L.2    Gamez, J.3
  • 4
    • 77955001874 scopus 로고    scopus 로고
    • MRI in the assessment of muscular pathology: A comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies
    • 20177980 10.1007/s11547-010-0531-2 1:STN:280:DC%2BC3cnlt1Cqsw%3D%3D
    • Stramare R, Beltrame V, Dal Borgo R et al (2010) MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies. Radiol Med 115:585-599
    • (2010) Radiol Med , vol.115 , pp. 585-599
    • Stramare, R.1    Beltrame, V.2    Dal Borgo, R.3
  • 5
    • 10044247184 scopus 로고    scopus 로고
    • A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21
    • 15367920 10.1038/sj.ejhg.5201289 1:CAS:528:DC%2BD2cXpvV2rt7c%3D
    • Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M (2004) A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet 12:1033-1040
    • (2004) Eur J Hum Genet , vol.12 , pp. 1033-1040
    • Starling, A.1    Kok, F.2    Passos-Bueno, M.R.3    Vainzof, M.4    Zatz, M.5
  • 6
    • 0036916438 scopus 로고    scopus 로고
    • Myotilin mutation found in second pedigree with LGMD1A
    • 12428213 10.1086/344532 1:CAS:528:DC%2BD3sXjsFSk
    • Hauser MA, Conde CB, Kowaljow V et al (2002) Myotilin mutation found in second pedigree with LGMD1A. Am J Hum Genet 71:1428-1432
    • (2002) Am J Hum Genet , vol.71 , pp. 1428-1432
    • Hauser, M.A.1    Conde, C.B.2    Kowaljow, V.3
  • 7
    • 0030898109 scopus 로고    scopus 로고
    • Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21
    • 9106535
    • Van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA (1997) Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet 60:891-895
    • (1997) Am J Hum Genet , vol.60 , pp. 891-895
    • Van Der Kooi, A.J.1    Van Meegen, M.2    Ledderhof, T.M.3    McNally, E.M.4    De Visser, M.5    Bolhuis, P.A.6
  • 9
    • 84859217695 scopus 로고    scopus 로고
    • Exome sequencing eveals DNAJB6 mutations in dominantly-inherited myopathy
    • 22334415 10.1002/ana.22683 1:CAS:528:DC%2BC38XksFaju7c%3D
    • Harms MB, Sommerville RB, Allred P et al (2012) Exome sequencing eveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol 71:407-416
    • (2012) Ann Neurol , vol.71 , pp. 407-416
    • Harms, M.B.1    Sommerville, R.B.2    Allred, P.3
  • 10
    • 84859432401 scopus 로고    scopus 로고
    • Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
    • 22366786 10.1038/ng.1103 1:CAS:528:DC%2BC38Xislygtb8%3D
    • Sarparanta J, Jonson PH, Golzio C et al (2012) Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet 44:450-455
    • (2012) Nat Genet , vol.44 , pp. 450-455
    • Sarparanta, J.1    Jonson, P.H.2    Golzio, C.3
  • 11
    • 79955466811 scopus 로고    scopus 로고
    • Four new Finnish families with LGMD1D; Refinement of the clinical phenotype and the linked 7q36 locus
    • 21376592 10.1016/j.nmd.2011.02.008
    • Hackman P, Sandell S, Sarparanta J et al (2011) Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus. Neuromusc Disord 21:338-344
    • (2011) Neuromusc Disord , vol.21 , pp. 338-344
    • Hackman, P.1    Sandell, S.2    Sarparanta, J.3
  • 12
    • 77952670370 scopus 로고    scopus 로고
    • A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H
    • 20068593 10.1038/ejhg.2009.235
    • Bisceglia L, Zoccolella S, Torraco A et al (2010) A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. Eur J Hum Genet 18:636-641
    • (2010) Eur J Hum Genet , vol.18 , pp. 636-641
    • Bisceglia, L.1    Zoccolella, S.2    Torraco, A.3
  • 13
    • 84877119095 scopus 로고    scopus 로고
    • Next-generation sequencing identifies Transportin 3 as the causative gene for LGMD1F
    • (in press)
    • Torella A, Fanin M, Mutarelli M, et al (2013) Next-generation sequencing identifies Transportin 3 as the causative gene for LGMD1F. PLoS One (in press)
    • (2013) PLoS One
    • Torella, A.1    Fanin, M.2    Mutarelli, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.