K. Amburgey, N. Mcnamara, L. Bennett, M. Mccormick, G. Acsadi et al., Prevalence of congenital myopathies in a representative pediatric united states population, Annals of Neurology, vol.130, issue.Pt 8, pp.662-667, 2011.
DOI : 10.1002/ana.22510

S. Arbogast, M. Beuvin, B. Fraysse, H. Zhou, F. Muntoni et al., -related myopathy: From pathophysiology to treatment, Annals of Neurology, vol.105, issue.6, pp.677-86, 2009.
DOI : 10.1002/ana.21644

URL : https://hal.archives-ouvertes.fr/halshs-00955799

S. Arbogast and A. Ferreiro, Selenoproteins and Protection against Oxidative Stress: Selenoprotein N as a Novel Player at the Crossroads of Redox Signaling and Calcium Homeostasis, Antioxidants & Redox Signaling, vol.12, issue.7, pp.893-904, 2010.
DOI : 10.1089/ars.2009.2890

G. Avila and R. Dirksen, Functional Effects of Central Core Disease Mutations in the Cytoplasmic Region of the Skeletal Muscle Ryanodine Receptor, The Journal of General Physiology, vol.1, issue.3, pp.277-90, 2001.
DOI : 10.1074/JBC.274.37.25971

G. Avila, O. Brien, J. Dirksen, and R. , Excitation-contraction uncoupling by a human central core disease mutation in the ryanodine receptor, Proceedings of the National Academy of Sciences, vol.98, issue.7, pp.4215-4235, 2001.
DOI : 10.1073/pnas.071048198

D. Bassett, R. Bryson-richardson, D. Daggett, P. Gautier, D. Keenan et al., Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo, Development, vol.130, issue.23, pp.5851-60, 2003.
DOI : 10.1242/dev.00799

J. Baughman, F. Perocchi, H. Girgis, M. Plovanich, C. Belcher-timme et al., Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter, Nature, vol.199, issue.7360, pp.341-346, 2011.
DOI : 10.1038/nature10234

J. Bruton, N. Place, T. Yamada, J. Silva, F. Andrade et al., Reactive oxygen species and fatigue-induced prolonged low-frequency force depression in skeletal muscle fibres of rats, mice and SOD2 overexpressing mice, The Journal of Physiology, vol.68, issue.1, pp.175-84, 2008.
DOI : 10.1113/jphysiol.2007.147470

N. Clarke, L. Waddell, S. Cooper, M. Perry, R. Smith et al., Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion, Human Mutation, vol.31, issue.7, pp.1544-50, 2010.
DOI : 10.1002/humu.21278

URL : https://hal.archives-ouvertes.fr/inserm-00588144

J. Dowling, A. Vreede, S. Low, E. Gibbs, J. Kuwada et al., Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy, PLoS Genetics, vol.9, issue.2, p.1000372, 2009.
DOI : 10.1371/journal.pgen.1000372.s009

A. Dulhunty, EXCITATION???CONTRACTION COUPLING FROM THE 1950s INTO THE NEW MILLENNIUM, Clinical and Experimental Pharmacology and Physiology, vol.7, issue.9, pp.763-72, 2006.
DOI : 10.1073/pnas.0505766102

W. Durham, P. Aracena-parks, C. Long, A. Rossi, S. Goonasekera et al., RyR1 S-Nitrosylation Underlies Environmental Heat Stroke and Sudden Death in Y522S RyR1 Knockin Mice, Cell, vol.133, issue.1, pp.53-65, 2008.
DOI : 10.1016/j.cell.2008.02.042

C. Giulivi, C. Ross-inta, A. Omanska-klusek, E. Napoli, D. Sakaguchi et al., Basal Bioenergetic Abnormalities in Skeletal Muscle from Ryanodine Receptor Malignant Hyperthermia-susceptible R163C Knock-in Mice, Journal of Biological Chemistry, vol.286, issue.1, pp.99-113, 2011.
DOI : 10.1074/jbc.M110.153247

T. Hall, R. Bryson-richardson, S. Berger, A. Jacoby, N. Cole et al., The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin ??2-deficient congenital muscular dystrophy, Proceedings of the National Academy of Sciences, vol.104, issue.17, pp.7092-7099, 2007.
DOI : 10.1073/pnas.0700942104

A. Hernandez-lain, I. Husson, N. Monnier, C. Farnoux, G. Brochier et al., de novo RYR1 heterozygous mutation (I4898T) causing lethal core???rod myopathy in twins, European Journal of Medical Genetics, vol.54, issue.1, pp.29-33, 2011.
DOI : 10.1016/j.ejmg.2010.09.009

URL : https://hal.archives-ouvertes.fr/inserm-00639653

C. Hidalgo, G. Sanchez, G. Barrientos, and P. Aracena-parks, A Transverse Tubule NADPH Oxidase Activity Stimulates Calcium Release from Isolated Triads via Ryanodine Receptor Type 1 S -Glutathionylation, Journal of Biological Chemistry, vol.281, issue.36, pp.26473-82, 2006.
DOI : 10.1074/jbc.M600451200

H. Hirata, T. Watanabe, J. Hatakeyama, S. Sprague, L. Saint-amant et al., Zebrafish relatively relaxed mutants have a ryanodine receptor defect, show slow swimming and provide a model of multi-minicore disease, Development, vol.134, issue.15, pp.2771-81, 2007.
DOI : 10.1242/dev.004531

W. Huang-da, B. Sherman, and R. Lempicki, Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists, Nucleic Acids Research, vol.37, issue.1, pp.1-13, 2009.
DOI : 10.1093/nar/gkn923

W. Huang-da, B. Sherman, and R. Lempicki, Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources, Nature Protocols, vol.99, issue.1, pp.44-57, 2009.
DOI : 10.1038/nprot.2008.211

H. Jungbluth, Central core disease, Orphanet Journal of Rare Diseases, vol.2, issue.1, p.25, 2007.
DOI : 10.1186/1750-1172-2-25

URL : https://hal.archives-ouvertes.fr/inserm-00383898

H. Jungbluth, Multi-minicore Disease, Orphanet Journal of Rare Diseases, vol.2, issue.1, p.31, 2007.
DOI : 10.1186/1750-1172-2-31

URL : https://hal.archives-ouvertes.fr/inserm-00383898

M. Jurynec, R. Xia, J. Mackrill, D. Gunther, T. Crawford et al., Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle, Proceedings of the National Academy of Sciences, vol.105, issue.34, pp.12485-90, 2008.
DOI : 10.1073/pnas.0806015105

S. Kishi, P. Bayliss, J. Uchiyama, E. Koshimizu, J. Qi et al., The Identification of Zebrafish Mutants Showing Alterations in Senescence-Associated Biomarkers, PLoS Genetics, vol.130, issue.20, p.1000152, 2008.
DOI : 10.1371/journal.pgen.1000152.s009

T. Mant, J. Tempowski, G. Volans, and J. Talbot, Adverse reactions to acetylcysteine and effects of overdose., BMJ, vol.289, issue.6439, pp.217-226, 1984.
DOI : 10.1136/bmj.289.6439.217

M. Mckenna, I. Medved, C. Goodman, M. Brown, A. Bjorksten et al., -pump activity and delays fatigue during prolonged exercise in humans, The Journal of Physiology, vol.565, issue.1, pp.279-88, 2006.
DOI : 10.1113/jphysiol.2006.115352

URL : https://hal.archives-ouvertes.fr/in2p3-00025581

N. Monnier, A. Laquerriere, S. Marret, A. Goldenberg, I. Marty et al., First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia, Neuromuscular Disorders, vol.19, issue.10, pp.680-684, 2009.
DOI : 10.1016/j.nmd.2009.07.007

URL : https://hal.archives-ouvertes.fr/inserm-00516069

L. Morrison, Unraveling RYR1 mutations and muscle biopsies, Neurology, vol.70, issue.2, pp.99-100, 2008.
DOI : 10.1212/01.wnl.0000298087.64205.af

F. Norwood, C. Harling, P. Chinnery, M. Eagle, K. Bushby et al., Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population, Brain, vol.132, issue.11, pp.3175-86, 2009.
DOI : 10.1093/brain/awp236

I. Pessah, K. Kim, and W. Feng, Redox sensing properties of the Ryanodine receptor complex, Frontiers in Bioscience, vol.7, issue.1, pp.72-81, 2002.
DOI : 10.2741/A741

S. Powers and M. Jackson, Exercise-Induced Oxidative Stress: Cellular Mechanisms and Impact on Muscle Force Production, Physiological Reviews, vol.88, issue.4, pp.1243-76, 2008.
DOI : 10.1152/physrev.00031.2007

M. Reich, T. Liefeld, J. Gould, J. Lerner, P. Tamayo et al., GenePattern 2.0, Nature Genetics, vol.4, issue.5, pp.500-501, 2006.
DOI : 10.1126/science.286.5439.531

M. Reid, D. Stokic, S. Koch, F. Khawli, and A. Leis, N-acetylcysteine inhibits muscle fatigue in humans., Journal of Clinical Investigation, vol.94, issue.6, pp.2468-74, 1994.
DOI : 10.1172/JCI117615

H. Rosenberg, M. Davis, D. James, N. Pollock, and K. Stowell, Malignant hyperthermia, Orphanet Journal of Rare Diseases, vol.2, issue.1, p.21, 2007.
DOI : 10.1186/1750-1172-2-21

S. Treves, H. Jungbluth, F. Muntoni, and F. Zorzato, Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm, Current Opinion in Pharmacology, vol.8, issue.3, pp.319-345, 2008.
DOI : 10.1016/j.coph.2008.01.005

C. Viscomi, A. Burlina, I. Dweikat, M. Savoiardo, C. Lamperti et al., Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy, Nature Medicine, vol.74, issue.8, pp.869-71, 2010.
DOI : 10.1038/nm.2188

L. Wei, G. Salahura, S. Boncompagni, K. Kasischke, F. Protasi et al., Mitochondrial superoxide flashes: metabolic biomarkers of skeletal muscle activity and disease, The FASEB Journal, vol.25, issue.9, 2011.
DOI : 10.1096/fj.11-187252

J. Wilmshurst, S. Lillis, H. Zhou, K. Pillay, H. Henderson et al., RYR1 mutations are a common cause of congenital myopathies with central nuclei, Annals of Neurology, vol.11, issue.Spec No 2, pp.717-743, 2010.
DOI : 10.1002/ana.22119

R. Zalk, S. Lehnart, and A. Marks, Modulation of the Ryanodine Receptor and Intracellular Calcium, Annual Review of Biochemistry, vol.76, issue.1, pp.367-85, 2007.
DOI : 10.1146/annurev.biochem.76.053105.094237

H. Zhou, H. Jungbluth, C. Sewry, L. Feng, E. Bertini et al., Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies, Brain, vol.130, issue.8, pp.2024-2060, 2007.
DOI : 10.1093/brain/awm096

E. Zvaritch, N. Kraeva, E. Bombardier, R. Mccloy, F. Depreux et al., Ca2+ dysregulation in Ryr1I4895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods, Proceedings of the National Academy of Sciences, vol.106, issue.51, pp.21813-21821, 2009.
DOI : 10.1073/pnas.0912126106