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Neuromuscular Disorders
Volumn 16, Issue 11, 2006, Pages 749-753
Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1
Author keywords

MTM1; Myotubular myopathy; XLMTM
Indexed keywords

AGED; ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; DISEASE ASSOCIATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; MALE; MUSCLE WEAKNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;
EID: 33750438495     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.07.020     Document Type: Article
Times cited : (19)
References (7)
  • 1
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    • MTM1 mutations in X-linked myotubular myopathy
    • Laporte J., Biancalana V., Tanner S.M., et al. MTM1 mutations in X-linked myotubular myopathy. Hum Mutat 15 (2000) 393-409
    • (2000) Hum Mutat , vol.15 , pp. 393-409
    • Laporte, J.1    Biancalana, V.2    Tanner, S.M.3
  • 2
    • 0032986873 scopus 로고    scopus 로고
    • Medical complications in long-term survivors with X-linked myotubular myopathy
    • Herman G.E., Finegold M., Zhao W., de Gouyon B., and Metzenberg A. Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr 134 (1999) 206-214
    • (1999) J Pediatr , vol.134 , pp. 206-214
    • Herman, G.E.1    Finegold, M.2    Zhao, W.3    de Gouyon, B.4    Metzenberg, A.5
  • 3
    • 0037317697 scopus 로고    scopus 로고
    • Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
    • Biancalana V., Caron O., Gallati S., et al. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet 112 (2003) 135-142
    • (2003) Hum Genet , vol.112 , pp. 135-142
    • Biancalana, V.1    Caron, O.2    Gallati, S.3
  • 4
    • 0031960938 scopus 로고    scopus 로고
    • X-linked myotubular myopathy-a long-term follow-up study
    • Barth P.G., and Dubowitz V. X-linked myotubular myopathy-a long-term follow-up study. Eur J Paediatr Neurol 2 (1998) 49-56
    • (1998) Eur J Paediatr Neurol , vol.2 , pp. 49-56
    • Barth, P.G.1    Dubowitz, V.2
  • 5
    • 0042131676 scopus 로고    scopus 로고
    • X-linked myotubular myopathy in a family with three adult survivors
    • Yu S., Manson J., White S., et al. X-linked myotubular myopathy in a family with three adult survivors. Clin Genet 64 (2003) 148-152
    • (2003) Clin Genet , vol.64 , pp. 148-152
    • Yu, S.1    Manson, J.2    White, S.3
  • 6
    • 27644543614 scopus 로고    scopus 로고
    • Mutations in dynamin 2 cause dominant centronuclear myopathy
    • Bitoun M., Maugenre S., Jeannet P.Y., et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 37 (2005) 1207-1209
    • (2005) Nat Genet , vol.37 , pp. 1207-1209
    • Bitoun, M.1    Maugenre, S.2    Jeannet, P.Y.3
  • 7
    • 0030833392 scopus 로고    scopus 로고
    • Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy
    • de Gouyon B.M., Zhao W., Laporte J., Mandel J.L., Metzenberg A., and Herman G.E. Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. Hum Mol Genet 6 (1997) 1499-1504
    • (1997) Hum Mol Genet , vol.6 , pp. 1499-1504
    • de Gouyon, B.M.1    Zhao, W.2    Laporte, J.3    Mandel, J.L.4    Metzenberg, A.5    Herman, G.E.6

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.