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Volumn 9, Issue 1, 2013, Pages 57-60

Two cases of X-linked myotubular myopathy with novel MTM1 mutations

Author keywords

Centronuclear myopathy; MTM1; Muscle hypotonia; Myotubular myopathy; X linked

Indexed keywords


EID: 84887845062     PISSN: 17386586     EISSN: 20055013     Source Type: Journal    
DOI: 10.3988/jcn.2013.9.1.57     Document Type: Article
Times cited : (5)

References (12)
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  • 2
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  • 8
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    • Centronuclear myopathy: Clinical, morphological and genetic characters. A review of 288 cases
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    • de Angelis, M.S.1    Palmucci, L.2    Leone, M.3    Doriguzzi, C.4
  • 9
    • 0028787506 scopus 로고
    • X-linked myotubular myopathy: Clinical observations in ten additional cases
    • Joseph M, Pai GS, Holden KR, Herman G. X-linked myotubular myopathy: Clinical observations in ten additional cases. Am J Med Genet 1995;59:168-173.
    • (1995) Am J Med Genet , vol.59 , pp. 168-173
    • Joseph, M.1    Pai, G.S.2    Holden, K.R.3    Herman, G.4
  • 10
    • 0032986873 scopus 로고    scopus 로고
    • Medical complications in long-term survivors with X-linked myotubular myopathy
    • Herman G., Finegold M, Zhao W, de Gouyon B, Metzenberg A. Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr 1999;134:206-214.
    • (1999) J Pediatr , vol.134 , pp. 206-214
    • Herman, G.1    Finegold, M.2    Zhao, W.3    de Gouyon, B.4    Metzenberg, A.5
  • 12
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    • A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
    • Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996; 13:175-182.
    • (1996) Nat Genet , vol.13 , pp. 175-182
    • Laporte, J.1    Hu, L.J.2    Kretz, C.3    Mandel, J.L.4    Kioschis, P.5    Coy, J.F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.