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Volumn 252, Issue 5, 2005, Pages 621-623

A new LMNA mutation causing limb girdle muscular dystrophy 1B [10]

Author keywords

[No Author keywords available]

Indexed keywords

CONTRAST MEDIUM; LAMIN A; LAMIN C;

EID: 20044390218     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-005-0719-x     Document Type: Letter
Times cited : (4)

References (14)
  • 4
    • 0043172367 scopus 로고    scopus 로고
    • Effect of pathogenic mis-sense mutations in lamin a on its interaction with emerin in vivo
    • Holt I, Ostlund C, Stewart CL, Man NN, Worman HJ, Morris GE (2003) Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo. J Cell Sci 116:3027-3035
    • (2003) J Cell Sci , vol.116 , pp. 3027-3035
    • Holt, I.1    Ostlund, C.2    Stewart, C.L.3    Man, N.N.4    Worman, H.J.5    Morris, G.E.6
  • 6
    • 0034882439 scopus 로고    scopus 로고
    • A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block
    • Kitaguchi T, Matsubara S, Sato M, Miyamoto K, Hirai S, Schwartz K, Bonne G (2001) A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. Neuromuscul Disord 11:542-546
    • (2001) Neuromuscul Disord , vol.11 , pp. 542-546
    • Kitaguchi, T.1    Matsubara, S.2    Sato, M.3    Miyamoto, K.4    Hirai, S.5    Schwartz, K.6    Bonne, G.7
  • 8
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
    • Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K (2000) Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 9:1453-1459
    • (2000) Hum Mol Genet , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    Van Der Kooi, A.J.3    Van Meegen, M.4    Baas, F.5    Bolhuis, P.A.6    De Visser, M.7    Schwartz, K.8
  • 13
    • 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
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.