Neuromuscular Disorders
Volume 19, Issue 4 , Pages 300-305 , April 2009

161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008

  • Nigel G. Laing

      Affiliations

    • Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia
    • Corresponding Author InformationCorresponding author. Fax: +61 8 9346 1818.
    • ,
  • Carina Wallgren-Pettersson

      Affiliations

    • The Department of Medical Genetics, University of Helsinki, The Folkhälsan Institute of Genetics, Helsinki, Finland

References 

  1. Clarke NF, Kolski H, Dye DE, et al. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol. 2008;63:329–337
  2. Agrawal PB, Greenleaf RS, Tomczak KK, et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet. 2007;80:162–167
  3. Voermans NC, Minnema M, Lammens M, et al. Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. Neurology. 2008;71:532–534
  4. Benveniste O, Laforet P, Dubourg O, et al. Stem cell transplantation in a patient with late-onset nemaline myopathy and gammopathy. Neurology. 2008;71:531–532
  5. Dalakas MC, Smith SA. A “nema” of hope in the treatment of late-onset nemaline myopathy. Neurology. 2008;71:472–473
  6. Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, et al. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord. 2007;17:433–442
  7. Lake BD, Wilson J. Zebra body myopathy. Clinical, histochemical and ultrastructural studies. J Neurol Sci. 1975;24:437–446
  8. Albert TJ, Molla MN, Muzny DM, et al. Direct selection of human genomic loci by microarray hybridization. Nat Methods. 2007;4:903–905
  9. Donner K, Sandbacka M, Lehtokari VL, Wallgren-Pettersson C, Pelin K. Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. Eur J Hum Genet. 2004;12:744–751
  10. Nguyen MA, Hardeman E. Mouse models for thin filament disease. In:  Laing NG editors. The sarcomere and skeletal muscle disease. New York: Landes Bioscience Springer; 2008;p. 66–77
  11. Ilkovski B, Cooper ST, Nowak K, et al. Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. Am J Hum Genet. 2001;68:1333–1343
  12. Corbett MA, Robinson CS, Dunglison GF, et al. A mutation in alpha-tropomyosin (slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy. Hum Mol Genet. 2001;10:317–328
  13. Ryan MM, Sy C, Rudge S, et al. Dietary l-tyrosine supplementation in nemaline myopathy. J Child Neurol. 2008;23:609–613
  14. D’Amico A, Graziano C, Pacileo G, et al. Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. Neuromuscul Disord. 2006;16:548–552
  15. Ilkovski B, Nowak KJ, Domazetovska A, et al. Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Hum Mol Genet. 2004;13:1727–1743
  16. Domazetovska A, Ilkovski B, Cooper ST, et al. Mechanisms underlying intranuclear rod formation. Brain. 2007;130:3275–3284
  17. Feng JJ, Marston S. Genotype–phenotype correlations in ACTA1 mutations that cause congenital myopathies. Neuromuscul Disord. 2009;19:6–16
  18. Marquis J, Meyer K, Angehrn L, Kampfer SS, Rothen-Rutishauser B, Schumperli D. Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence. Mol Ther. 2007;15:1479–1486
  19. Garcia-Blanco MA. Messenger RNA reprogramming by spliceosome-mediated RNA trans-splicing. J Clin Invest. 2003;112:474–480
  20. Vandekerckhove J, Bugaisky G, Buckingham M. Simultaneous expression of skeletal muscle and heart actin proteins in various striated muscle tissues and cells. A quantitative determination of the two actin isoforms. J Biol Chem. 1986;261:1838–1843
  21. Ilkovski B, Clement S, Sewry C, North KN, Cooper ST. Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscul Disord. 2005;15:829–835
  22. Nowak KJ, Sewry CA, Navarro C, et al. Nemaline myopathy caused by absence of alpha-skeletal muscle actin. Ann Neurol. 2007;61:175–184
  23. Crawford K, Flick R, Close L, et al. Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period. Mol Cell Biol. 2002;22:5887–5896
  24. Ravenscroft G, Colley SM, Walker KR, et al. Expression of cardiac alpha-actin spares extraocular muscles in skeletal muscle alpha-actin diseases – quantification of striated alpha-actins by MRM–mass spectrometry. Neuromuscul Disord. 2008;18:953–958
  25. Sarkozy A, Bushby K, Beroud C, Lochmuller H. 157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands. Neuromuscul Disord. 2008;18:997–1001

PII: S0960-8966(09)00028-5

doi: 10.1016/j.nmd.2009.02.002

Neuromuscular Disorders
Volume 19, Issue 4 , Pages 300-305 , April 2009

Article Tools