Extensive morphological and immunohistochemical characterization in myotubular myopathy

Brain and Behavior

Volumn 3, Issue 4, 2013, Pages 476-486

  Shichiji, Minobu ^a,b   Biancalana, Valérie ^c   Fardeau, Michel ^a,d   Hogrel, Jean Yves ^d   Osawa, Makiko ^b   Laporte, Jocelyn ^c   Romero, Norma Beatriz ^a,d  

^a UMRS974 Institut de Myologie   (France)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Centronuclear myopathies; MTM 1; Myotubular myopathy; Myotubularin; Satellite cells; T tubules

Indexed keywords

ARTICLE; CELL ASSAY; CELL COUNT; CELL STRUCTURE; CENTRONUCLEAR MYOPATHY; CHRONOLOGY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; GENE; GENE IDENTIFICATION; GENE MUTATION; GESTATIONAL AGE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MOLECULAR PATHOLOGY; MORPHOLOGY; MUSCLE BIOPSY; MYOTUBULARIN GENE; NEWBORN; PRIORITY JOURNAL; PROTEIN DETERMINATION; SKELETAL MUSCLE MORPHOLOGY; SKELETAL MUSCLE SATELLITE CELL; TISSUE CHARACTERIZATION; X LINKED MYOTUBULAR MYOPATHY;

EID: 84888437324     PISSN: None     EISSN: 21623279     Source Type: Journal    
DOI: 10.1002/brb3.147     Document Type: Article

References (33)

1. Al-Qusairi, L., and J. Laporte. 2011. T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases. Skelet. Muscle 1:26.
2. Al-Qusairi, L., N. Weiss, and A. Toussaint. 2009. T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc. Natl. Acad. Sci. USA 106:18763.
3. Barbet, J. P., L. E. Thornell, and G. S. Butler-Browne. 1991. Immunocytochemical characterisation of two generations of fibers during the development of the human quadriceps muscle. Mech. Dev. 35:3-11.
4. Beggs, A. H., J. Böhm, E. Snead, M. Kozlowski, M. Maurer, K. Minor, et al. 2010. MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc. Natl. Acad. Sci. USA 107:14697-14702.
5. Bertini, E., V. Biancalana, A. Bolino, A. Buj Bello, M. Clague, P. Guicheney, et al. 2004. 118th ENMC international workshop on advances in myotubular myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy). Neuromuscul. Disord. 14:387-396.
6. Bevilacqua, J. A., M. Bitoun, V. Biancalana, A. Oldfors, G. Stoltenburg, K. G. Claeys, et al. 2009. "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Acta Neuropathol. 117:283-291.
7. Biancalana, V., O. Caron, S. Gallati, F. Baas, W. Kress, G. Novelli, et al. 2003. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum. Genet. 112:135-142.
8. Biancalana, V., A. H. Beggs, S. Das, H. Jungbluth, W. Kress, I. Nishino, et al. 2012. Clinical utility gene card for: centronuclear and myotubular myopathies. Eur. J. Hum. Genet. 20:????-????. doi: 10.1038/ejhg.2012.91.
9. Buj-Bello, A., V. Biancalana, C. Moutou, J. Laporte, and J. L. Mandel. 1999. Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. Hum. Mutat. 14:320-325.
10. Buj-Bello, A., V. Laugel, N. Messaddeq, H. Zahreddine, J. Laporte, J. F. Pellissier, et al. 2002. The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc. Natl. Acad. Sci. USA 99:15060-15065.
11. Butler-Browne, G. S., J. P. Barbet, and L. Thornell. 1990. Myosin heavy and light chain expression during human skeletal muscle development and precocious muscle maturation induced by thyroid hormone. Anat. Embryol. (Berl) 181:513-522.
12. Dowling, J. J., A. P. Vreede, S. E. Low, E. M. Gibbs, J. Y. Kuwada, C. G. Bonnemann, et al. 2009. Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet. 5:e1000372.
13. Fardeau, M. 1982. Congenital myopathies. Pp. 161-203 in F. L. Mastaglia and S. J. Walton, eds. Skeletal muscle pathology. Churchill Livingston, London.
14. Hnia, K., H. Tronchère, K. K. Tomczak, L. Amoasii, P. Schultz, A. H. Beggs, et al. 2011. Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J. Clin. Invest. 121:70-85.
15. Hoffjan, S., C. Thiels, M. Vorgerd, E. Neuen-Jacob, J. T. Epplen, and W. Kress. 2006. Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. Neuromuscul. Disord. 16:749-753.
16. Laporte, J., L. J. Hu, C. Kretz, J. L. Mandel, P. Kioschis, J. F. Coy, et al. 1996. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat. Genet. 13:175-182.
17. Laporte, J., C. Guiraud-Chaumeil, M. C. Vincent, J. L. Mandel, S. M. Tanner, S. Liechti-Gallati, et al. 1997. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Hum. Mol. Genet. 6:1505-1511.
18. Laporte, J., W. Kress, and J. L. Mandel. 2001. Diagnosis of X-linked myotubular myopathy by detection of myotubularin. Ann. Neurol. 50:42-46.
19. Lawlor, M. W., M. S. Alexander, M. G. Viola, H. Meng, R. Joubert, V. Gupta, et al. 2012. Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. Am. J. Pathol. 181:961-968.
20. McEntagart, M., G. Parsons, A. Buj-Bello, V. Biancalana, I. Fenton, M. Little, et al. 2002. Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul. Disord. 12:939-946.
21. North, K. N. 2004. Congenital myopathies. Pp. 1473-1533 in A. Engel and C. Franzini-Armstrong, eds. Myology. 3rd ed. Mc Graw Hill, New York, NY.
22. Razidlo, G. L., D. Katafiasz, and G. S. Taylor. 2011. Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate. J. Biol. Chem. 286:20005-20019.
23. Relaix, F., and C. Marcelle. 2009. Muscle stem cells. Curr. Opin. Cell Biol. 21:748-753. Review.
24. Relaix, F., D. Montarras, S. Zaffran, B. Gayraud-Morel, D. Rocancourt, S. Tajbakhsh, et al. 2006. Pax3 and Pax7 have distinct and overlapping functions in adult muscle progenitor cells. J. Cell Biol. 172:91-102. Erratum in: J Cell Biol. 2007; 176:125.
25. Romero, N. 2010. Centronuclear myopathies: a widening concept. Neuromuscul. Disord. 20:223-228.
26. Romero, N. B., and M. Bitoun. 2011. Centronuclear myopathies. Semin. Pediatr. Neurol. 18:250-256. Review
27. Sarnat, H. B. 1990. Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle. Can. J. Neurol. Sci. 17:109-123.
28. Sewry, C. A. 1998. The role of immunocytochemistry in congenital myopathies. Neuromuscul. Disord. 8:394-400. Review.
29. Soussi-Yanicostas, N., M. Chevallay, C. Laurent-Winter, F. M. Tomé, M. Fardeau, and G. S. Butler-Browne. 1991. Distinct contractile protein profile in congenital myotonic dystrophy and X-linked myotubular myopathy. Neuromuscul. Disord. 1:103-111.
30. Tomé, F. M., and M. Fardeau. 1986. Nuclear changes in muscle disorders. Methods Achiev. Exp. Pathol. 12:261-296.
31. Tosch, V., N. Vasli, C. Kretz, A. S. Nicot, C. Gasnier, N. Dondaine, et al. 2010. Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations. Neuromuscul. Disord. 20:375-381.
32. Toussaint, A., B. S. Cowling, K. Hnia, M. Mohr, A. Oldfors, Y. Schwab, et al. 2011. Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathol. 121:253-266.
33. Zammit, P. S., F. Relaix, Y. Nagata, A. P. Ruiz, C. A. Collins, T. A. Partridge, et al. 2006. Pax7 and myogenic progression in skeletal muscle satellite cells. J. Cell Sci. 119:1824-1832.