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Volumn 81, Issue 14, 2013, Pages 1189-1190

Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations?

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN;

EID: 84888356966     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182a6cc43     Document Type: Editorial
Times cited : (6)

References (13)
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  • 4
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    • Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores
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  • 5
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    • Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies
    • Davidson AE, Siddiqui FM, Lopez MA, et al. Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. Brain 2013;136:508-521.
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    • Davidson, A.E.1    Siddiqui, F.M.2    Lopez, M.A.3
  • 6
    • 84886409449 scopus 로고    scopus 로고
    • Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
    • Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 2013;81:1205-1214.
    • (2013) Neurology , vol.81 , pp. 1205-1214
    • Ceyhan-Birsoy, O.1    Agrawal, P.B.2    Hidalgo, C.3
  • 8
    • 45349086526 scopus 로고    scopus 로고
    • Physiological functions of the giant elastic protein titin in mammalian striated muscle
    • DOI 10.2170/physiolsci.RV005408
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    • (2008) Journal of Physiological Sciences , vol.58 , Issue.3 , pp. 151-159
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  • 9
    • 13844311060 scopus 로고    scopus 로고
    • Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J
    • Udd B, Vihola A, Sarparanta J, Richard I, Hackman P. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology 2005;64:636-642. (Pubitemid 40261891)
    • (2005) Neurology , vol.64 , Issue.4 , pp. 636-642
    • Udd, B.1    Vihola, A.2    Sarparanta, J.3    Richard, I.4    Hackman, P.5
  • 10
    • 84861563537 scopus 로고    scopus 로고
    • Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
    • Ohlsson M, Hedberg C, Bradvik B, et al. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain 2012;135:1682-1694.
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    • Titin mutation segregates with hereditary myopathy with early respiratory failure
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    • Pfeffer, G.1    Elliott, H.R.2    Griffin, H.3
  • 13
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    • Truncations of titin causing dilated cardiomyopathy
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.