C. Wang, J. Dowling, K. North, M. Schroth, and T. Sejersen, Consensus Statement on Standard of Care for Congenital Myopathies, Journal of Child Neurology, vol.27, issue.3, pp.363-382, 2012.
DOI : 10.1177/0883073812436605

J. Nance, J. Dowling, E. Gibbs, and C. Bonnemann, Congenital Myopathies: An Update, Current Neurology and Neuroscience Reports, vol.134, issue.2, pp.165-174, 2012.
DOI : 10.1007/s11910-012-0255-x

C. Sewry, Pathological defects in congenital myopathies, Journal of Muscle Research and Cell Motility, vol.37, issue.2, pp.231-238, 2008.
DOI : 10.1007/s10974-008-9155-8

K. Amburgey, N. Mcnamara, L. Bennett, M. Mccormick, and G. Acsadi, Prevalence of congenital myopathies in a representative pediatric united states population, Annals of Neurology, vol.130, issue.Pt 8, pp.662-665, 2011.
DOI : 10.1002/ana.22510

S. Ng, D. Nickerson, M. Bamshad, and J. Shendure, Massively parallel sequencing and rare disease, Human Molecular Genetics, vol.19, issue.R2, pp.119-124, 2010.
DOI : 10.1093/hmg/ddq390

H. Li and R. Durbin, Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinformatics, vol.25, issue.14, pp.1754-1760, 2009.
DOI : 10.1093/bioinformatics/btp324

H. Li, B. Handsaker, A. Wysoker, T. Fennell, and J. Ruan, The Sequence Alignment/Map format and SAMtools, Bioinformatics, vol.25, issue.16, pp.2078-2079, 2009.
DOI : 10.1093/bioinformatics/btp352

P. Ng and S. Henikoff, SIFT: predicting amino acid changes that affect protein function, Nucleic Acids Research, vol.31, issue.13, pp.3812-3814, 2003.
DOI : 10.1093/nar/gkg509

V. Ramensky, P. Bork, and S. Sunyaev, Human non-synonymous SNPs: server and survey, Nucleic Acids Research, vol.30, issue.17, pp.3894-3900, 2002.
DOI : 10.1093/nar/gkf493

M. Reese, F. Eeckman, D. Kulp, and D. Haussler, Improved Splice Site Detection in Genie, Journal of Computational Biology, vol.4, issue.3, pp.311-323, 1997.
DOI : 10.1089/cmb.1997.4.311

F. Desmet, D. Hamroun, M. Lalande, G. Collod-beroud, and M. Claustres, Human Splicing Finder: an online bioinformatics tool to predict splicing signals, Nucleic Acids Research, vol.37, issue.9, p.67, 2009.
DOI : 10.1093/nar/gkp215

URL : https://hal.archives-ouvertes.fr/inserm-00396239

I. Marty, M. Robert, M. Villaz, D. Jongh, K. Lai et al., Biochemical evidence for a complex involving dihydropyridine receptor and ryanodine receptor in triad junctions of skeletal muscle., Proceedings of the National Academy of Sciences, vol.91, issue.6, pp.2270-2274, 1994.
DOI : 10.1073/pnas.91.6.2270

R. Robinson, D. Carpenter, M. Shaw, J. Halsall, and P. Hopkins, in malignant hyperthermia and central core disease, Human Mutation, vol.12, issue.10, pp.977-989, 2006.
DOI : 10.1002/humu.20356

J. Bevilacqua, N. Monnier, M. Bitoun, B. Eymard, and A. Ferreiro, Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization, Neuropathology and Applied Neurobiology, vol.19, issue.3, pp.271-284, 2011.
DOI : 10.1111/j.1365-2990.2010.01149.x

URL : https://hal.archives-ouvertes.fr/inserm-00639292

H. Jungbluth, H. Zhou, L. Hartley, B. Halliger-keller, and S. Messina, Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene, Neurology, vol.65, issue.12, pp.1930-1935, 2005.
DOI : 10.1212/01.wnl.0000188870.37076.f2

H. Zhou, N. Yamaguchi, L. Xu, Y. Wang, and C. Sewry, Characterization of recessive RYR1 mutations in core myopathies, Human Molecular Genetics, vol.15, issue.18, pp.2791-2803, 2006.
DOI : 10.1093/hmg/ddl221

C. Wallgren-pettersson, K. Donner, C. Sewry, E. Bijlsma, and M. Lammens, Mutations in the nebulin gene can cause severe congenital nemaline myopathy, Neuromuscular Disorders, vol.12, issue.7-8, pp.674-679, 2002.
DOI : 10.1016/S0960-8966(02)00065-2

K. Pelin, P. Hilpela, K. Donner, C. Sewry, and P. Akkari, Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy, Proceedings of the National Academy of Sciences, vol.96, issue.5, pp.2305-2310, 1999.
DOI : 10.1073/pnas.96.5.2305

M. Lawlor, C. Ottenheijm, V. Lehtokari, K. Cho, and K. Pelin, Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy, Skeletal Muscle, vol.1, issue.1, p.23, 2011.
DOI : 10.1073/pnas.83.10.3542

K. Quane, J. Healy, K. Keating, B. Manning, and F. Couch, Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia, Nature Genetics, vol.19, issue.1, pp.51-55, 1993.
DOI : 10.1006/abio.1987.9999

Y. Zhang, H. Chen, V. Khanna, D. Leon, S. Phillips et al., A mutation in the human ryanodine receptor gene associated with central core disease, Nature Genetics, vol.28, issue.1, pp.46-50, 1993.
DOI : 10.1006/abio.1987.9999

N. Monnier, A. Ferreiro, I. Marty, A. Labarre-vila, and P. Mezin, A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia, Human Molecular Genetics, vol.12, issue.10, pp.1171-1178, 2003.
DOI : 10.1093/hmg/ddg121

N. Clarke, L. Waddell, S. Cooper, M. Perry, and R. Smith, Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion, Human Mutation, vol.31, issue.7, pp.1544-1550, 2010.
DOI : 10.1002/humu.21278

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

N. Romero, N. Monnier, L. Viollet, A. Cortey, and M. Chevallay, Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia, Brain, vol.126, issue.11, pp.2341-2349, 2003.
DOI : 10.1093/brain/awg244

J. Bohm, E. Leshinsky-silver, S. Vassilopoulos, L. Gras, S. Lerman-sagie et al., Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation, Acta Neuropathologica, vol.265, issue.Pt 1, 2012.
DOI : 10.1007/s00401-012-1007-3

E. Gillard, K. Otsu, J. Fujii, V. Khanna, and S. De-leon, A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia, Genomics, vol.11, issue.3, pp.751-755, 1991.
DOI : 10.1016/0888-7543(91)90084-R

H. Jungbluth, C. Sewry, and F. Muntoni, Core Myopathies, Seminars in Pediatric Neurology, vol.18, issue.4, pp.239-249, 2011.
DOI : 10.1016/j.spen.2011.10.005

N. Vasli and J. Laporte, Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders, Acta Neuropathologica, vol.29, issue.3, pp.173-185, 2013.
DOI : 10.1007/s00401-012-1072-7