Pediatric Neurology
Volume 24, Issue 4 , Pages 297-299 , April 2001

A double mutation in a patient with X-linked myotubular myopathy

  • Nobutada Tachi, MD, PhD

      Affiliations

    • School of Health Sciences, Sapporo Medical University, Sapporo, Japan
    • Corresponding Author InformationCommunications should be addressed to: Dr. Tachi, School of Health Science, Sapporo Medical University, S1 W16 Chuo-ku, Sapporo 060, Japan
    • ,
  • Naoki Kozuka, PhD

      Affiliations

    • School of Health Sciences, Sapporo Medical University, Sapporo, Japan
    • ,
  • Shunzo Chiba, MD, PhD

      Affiliations

    • Department of Pediatrics, Sapporo Medical University, Sapporo, Japan
    • ,
  • Masanao Miyaji, MD, PhD

      Affiliations

    • Department of Pediatrics, Nagoya Johoku Hospital, Nagoya, Japan
    • ,
  • Isamu Watanabe, MD, PhD

      Affiliations

    • Department of Pediatrics, Nagoya Johoku Hospital, Nagoya, Japan

Received 25 September 2000 ,Accepted 3 January 2001.

References 

  1. 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
  2. Wallgren-Pettersson C, Clarke A, Samson F, et al.  The myotubular myopathies (Differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies). J Med Genet. 1995;32:673–679
  3. Thomas NS, Williams H, Cole G, et al.  X linked neonatal centronuclear/myotubular myopathy (Evidence for linkage to Xq28 DNA marker loci). J Med Genet. 1990;27:284–287
  4. Hu LJ, Laporte J, Kress W, et al.  Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. Hum Mol Genet. 1996;5:139–143
  5. Laporte J, Hu LJ, Kretz C, 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
  6. de Gouyon BM, Zhao W, Laporte J, Mandel JL, Metzenberg A, Herman GE. Charcterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. Hum Mol Genet. 1997;6:1499–1504
  7. Laporte J, Guiraud-Chaumeil C, Vincent MC, et al.  Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. Hum Mol Genet. 1997;6:1505–1511
  8. White MB, Carvalho M, Derse D, O’Brien SJ, Dean M. Detecting single base substitutions as heteroduplex polymorphisms. Genomics. 1992;12:301–306
  9. Tanner SM, Laporte J, Guiraud-Chaumeil C, Liechti-Gallati S. Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. Hum Mutat. 1998;11:62–68
  10. Tanner SM, Schneider V, Thomas NST, Clarke A, Lazarou L, Liechti-Gallati S. Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. Neuromusc Disord. 1999;9:41–49
  11. Laporte J, Biancalana V, Tanner SM, et al.  MTM1 mutations in X-linked myotubular myopathy. Hum Mut. 2000;15:393–409
  12. Kioschis P, Wiemann S, Heiss NS, et al.  Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1). Genomics. 1998;54:256–256
  13. 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;34:206–214

PII: S0887-8994(01)00244-2

Pediatric Neurology
Volume 24, Issue 4 , Pages 297-299 , April 2001

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