Clinical trial NCT01840657 - References

X-linked Myotubular Myopathy — Myotubular Myopathy Event Study

Citation(s)

•   Al-Qusairi L, Laporte J
  T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases. Skelet Muscle. 2011 Jul 13;1(1):26. doi: 10.1186/2044-5040-1-26.
•   Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A
  T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18763-8. doi: 10.1073/pnas.0900705106. Epub 2009 Oct 21.
•   Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD
  MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14697-702. doi: 10.1073/pnas.1003677107. Epub 2010 Aug 3.
•   Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL
  Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet. 2003 Feb;112(2):135-42. Epub 2002 Nov 28.
•   Buj-Bello A, Biancalana V, Moutou C, Laporte J, Mandel JL
  Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. Hum Mutat. 1999;14(4):320-5.
•   Buj-Bello A, Fougerousse F, Schwab Y, Messaddeq N, Spehner D, Pierson CR, Durand M, Kretz C, Danos O, Douar AM, Beggs AH, Schultz P, Montus M, Denèfle P, Mandel JL
  AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet. 2008 Jul 15;17(14):2132-43. doi: 10.1093/hmg/ddn112. Epub 2008 Apr 22.
•   Cao C, Backer JM, Laporte J, Bedrick EJ, Wandinger-Ness A
  Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking. Mol Biol Cell. 2008 Aug;19(8):3334-46. doi: 10.1091/mbc.E08-04-0367. Epub 2008 Jun 4.
•   Das S, Dowling J, Pierson CR
  X-Linked Centronuclear Myopathy. 2002 Feb 25 [updated 2011 Oct 6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from http://www.ncbi.nlm.nih.gov/books/NBK1432/
•   de Gouyon BM, Zhao W, Laporte J, Mandel JL, Metzenberg A, Herman GE
  Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. Hum Mol Genet. 1997 Sep;6(9):1499-504.
•   Dowling JJ, Gibbs EM, Feldman EL
  Membrane traffic and muscle: lessons from human disease. Traffic. 2008 Jul;9(7):1035-43. doi: 10.1111/j.1600-0854.2008.00716.x. Epub 2008 Feb 4. Review.
•   Dowling JJ, Vreede AP, Low SE, Gibbs EM, Kuwada JY, Bonnemann CG, Feldman EL
  Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet. 2009 Feb;5(2):e1000372. doi: 10.1371/journal.pgen.1000372. Epub 2009 Feb 6.
•   Herman GE, Finegold M, Zhao W, de Gouyon B, Metzenberg A
  Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr. 1999 Feb;134(2):206-14.
•   Herman GE, Kopacz K, Zhao W, Mills PL, Metzenberg A, Das S
  Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002 Feb;19(2):114-21.
•   Hoffjan S, Thiels C, Vorgerd M, Neuen-Jacob E, Epplen JT, Kress W
  Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. Neuromuscul Disord. 2006 Nov;16(11):749-53. Epub 2006 Sep 26.
•   Joseph M, Pai GS, Holden KR, Herman G
  X-linked myotubular myopathy: clinical observations in ten additional cases. Am J Med Genet. 1995 Nov 6;59(2):168-73.
•   Jungbluth H, Wallgren-Pettersson C, Laporte J
  Centronuclear (myotubular) myopathy. Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. Review.
•   Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL
  MTM1 mutations in X-linked myotubular myopathy. Hum Mutat. 2000;15(5):393-409. Review.
•   Lee IC, Su PH, Chen JY, Hu JM, Lu JJ, Ng YY
  Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis. J Child Neurol. 2012 Jan;27(1):99-104. doi: 10.1177/0883073811414419. Epub 2011 Aug 31.
•   Pénisson-Besnier I, Biancalana V, Reynier P, Cossée M, Dubas F
  Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study. Neuromuscul Disord. 2007 Feb;17(2):180-5. Epub 2007 Jan 23.
•   Robinson FL, Dixon JE
  Myotubularin phosphatases: policing 3-phosphoinositides. Trends Cell Biol. 2006 Aug;16(8):403-12. Epub 2006 Jul 7. Review.
•   Romero NB, Bitoun M
  Centronuclear myopathies. Semin Pediatr Neurol. 2011 Dec;18(4):250-6. doi: 10.1016/j.spen.2011.10.006. Review.

Prospective Study of Adverse Event Rates in Males With X-Linked Myotubular Myopathy

Details for clinical trial NCT01840657