Neuromuscular Disorders
Volume 18, Issue 12 , Pages 989-996 , December 2008

150th ENMC International Workshop: Core Myopathies, 9–11th March 2007, Naarden, The Netherlands

  • Heinz Jungbluth

      Affiliations

    • Clinical Neuroscience Division, King’s College, London, UK
    • Department of Paediatric Neurology–Neuromuscular Service, Evelina Children’s Hospital, St. Thomas’ Hospital, London, UK
    • ,
  • Francesco Muntoni

      Affiliations

    • Dubowitz Neuromuscular Centre, Institute of Child Health, Great Ormond Street Hospital for Children, 75013 Paris, France
    • ,
  • Ana Ferreiro

      Affiliations

    • INSERM UMR_582, Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, 47 Boulevard de l’Hôpital, 75013 Paris, France
    • UPMC Univ. Paris 06, UMR_582, 75013 Paris, France
    • Corresponding Author InformationCorresponding author. Address: INSERM UMR_582, Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, 47 Boulevard de l’Hôpital, 75013 Paris, France. Tel.: +33 142165704; fax: +33 142165700.
    • ,
  • On behalf of the Core Myopathy Consortium

Received 3 July 2008

References 

  1. Ferreiro A, Quijano-Roy S, Pichereau C, et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multi-minicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet. 2002;71:739–749
  2. Ferreiro A, Monnier N, Romero NB, et al. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol. 2002;51:750–759
  3. Jungbluth H, Müller CR, Halliger-Keller B, et al. Autosomal-recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology. 2002;59:284–287
  4. Monnier N, Ferreiro A, Marty I, Labarre-Vila A, Mezin P, Lunardi J. A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. Hum Mol Genet. 2003;12:1171–1178
  5. Jungbluth H, Zhou H, Hartley L, et al. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology. 2005;65:1930–1935
  6. Zhou H, Xu L, Yamaguchi N, et al. Characterization of RYR1 mutations in core myopathies. Human Mol Gen. 2006;15:2791–2803
  7. Jungbluth H, Zhou H, Sewry CA, et al. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2007;17:338–345
  8. Jungbluth H, Davis MR, Muller C, et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord. 2004;14:785–790
  9. Zhou H, Jungbluth H, Sewry CA, et al. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007;130:2024–2036
  10. Wu S, Ibarra MC, Malicdan MC, et al. Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006;129(Pt. 6):1470–1480
  11. F. Protasi, Structural interaction between RyRs and DHPRs in calcium release units of cardiac and skeletal muscle cells. In: the structure and function of calcium release channels. Front Biosci 2002; 7: d650–d658.
  12. Franzini-Armstrong C, Protasi F. The ryanodine receptor of striated muscle: a complex channel capable of multiple interactions. Physiol Rev. 1997;77(3):699–729
  13. Protasi F, Franzini-Armstrong C, Flucher BE. Coordinated incorporation of skeletal muscle dihydropyridine receptors and ryanodine receptors in peripheral couplings of BC3H1 cells. J Cell Biol. 1997;137:859–870
  14. Protasi F, Franzini-Armstrong C, Allen PD. Role of ryanodine receptors in the assembly of calcium release units in skeletal muscle. J Cell Biol. 1998;140:831–842
  15. Protasi F, Takekura H, Wang Y, et al. RyR1 and RyR3 have different roles in the assembly of calcium release units of skeletal muscle. Biophys J. 2000;79:2494–2508
  16. Protasi F, Paolini C, Nakai J, Beam KG, Franzini Armstrong C, Allen PD. Multiple regions of RyR1 mediate functional and structural interactions with α1S-DHPR in skeletal muscle. Biophys J. 2002;83:3230–3244
  17. Sei Y, Gallagher KL, Basile AS. Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B-lymphocytes. J Biol Chem. 1999;274:5995–6002
  18. Hosoi E, Nishizaki C, Gallagher KL, Wyre HW, Matsuo Y, Sei Y. Expression of the ryanodine receptor isoforms in immune cells. J Immunol. 2001;167:4887–4894
  19. O’Connell PJ, Klyachko VA, Ahern GP. Identification of functional type 1 ryanodine receptors in mouse dendritic cells. FEBS Lett. 2002;512:67–70
  20. Girard T, Cavagna D, Padovan E, et al. B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators. J Biol Chem. 2001;276:48077–48082
  21. Ducreux S, Zorzato F, Ferreiro A, et al. Functional properties of ryanodine receptors carrying 3 amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalised lymphocytes. Biochem J. 2006;395:259–266
  22. Tilgen N, Zorzato F, Halliger-Keller B, et al. Identification of 4 novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Human Mol Genetics. 2001;25:2879–2887
  23. Zorzato F, Yamaguchi N, Xu L, et al. Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor. Human Mol Gen. 2003;12:379–388
  24. Messina S, Hartley L, Main M, et al. Pilot trial of salbutamol in central core and multi-minicore diseases. Neuropediatrics. 2004;35(5):262–266
  25. Pellissier JF, de Barsy T, Faugere MC, Rebuffel P. Type III glycogenosis with multicore structures. Muscle Nerve. 1979;2:124–132
  26. Tein I, Haslam RH, Rhead WJ, Bennett MJ, Becker LE, Vockley J. Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. Neurology. 1999;52:366–372
  27. Kaindl AM, Ruschendorf F, Krause S, et al. Missense mutations of ACTA1 cause dominant congenital myopathy with cores. J Med Genet. 2004;41:842–848
  28. 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(1):162–167
  29. Carmignac V, Salih MA, Quijano-Roy S, et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol. 2007;61(4):340–351

PII: S0960-8966(08)00609-3

doi: 10.1016/j.nmd.2008.08.001

Neuromuscular Disorders
Volume 18, Issue 12 , Pages 989-996 , December 2008

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