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Volumn 19, Issue 3, 2011, Pages

Clinical utility gene card for: Laing distal myopathy

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COST EFFECTIVENESS ANALYSIS; DIFFERENTIAL DIAGNOSIS; DISTAL MYOPATHY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HUMAN; LAING DISTAL MYOPATHY; LIFESTYLE MODIFICATION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; GENETICS;

EID: 79951808966     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.190     Document Type: Article
Times cited : (2)

References (10)
  • 2
    • 67349219669 scopus 로고    scopus 로고
    • 165th ENMC international workshop: Distal myopathies 6-8th February 2009 Naarden, the Netherlands
    • Udd B: 165th ENMC international workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. Neuromusc Disord 2009; 19: 429-438.
    • (2009) Neuromusc Disord , vol.19 , pp. 429-438
    • Udd, B.1
  • 5
    • 34249869557 scopus 로고    scopus 로고
    • New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7
    • DOI 10.1212/01.wnl.0000264430.55233.72, PII 0000611420070605000015
    • Darin N, Tajsharghi H, Ostman-Smith I, Gilljam T, Oldfors A: New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7. Neurology 2007; 68: 2041-2042. (Pubitemid 46869712)
    • (2007) Neurology , vol.68 , Issue.23 , pp. 2041-2042
    • Darin, N.1    Tajsharghi, H.2    Ostman-Smith, I.3    Gilljam, T.4    Oldfors, A.5
  • 6
    • 77954359968 scopus 로고    scopus 로고
    • Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy
    • Cirak S, von Deimling F, Sachdev S et al: Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. Brain 2010; 133: 2123-2135.
    • (2010) Brain , vol.133 , pp. 2123-2135
    • Cirak, S.1    Von Deimling, F.2    Sachdev, S.3
  • 8
    • 34247554304 scopus 로고    scopus 로고
    • Hereditary myosin myopathies
    • DOI 10.1016/j.nmd.2007.02.008, PII S0960896607000521
    • Oldfors A: Hereditary myosin myopathies. Neuromusc Disord 2007; 17: 355-367. (Pubitemid 46679241)
    • (2007) Neuromuscular Disorders , vol.17 , Issue.5 , pp. 355-367
    • Oldfors, A.1
  • 10
    • 77957956350 scopus 로고    scopus 로고
    • MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy
    • Muelas N, Hackman P, Luque H et al: MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. Neurology 2010; 75: 732-741.
    • (2010) Neurology , vol.75 , pp. 732-741
    • Muelas, N.1    Hackman, P.2    Luque, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.