J. Lanner, D. Georgiou, A. Joshi, S. Hamilton, N. Romero et al., Ryanodine Receptors: Structure, Expression, Molecular Details, and Function in Calcium Release, Cold Spring Harbor Perspectives in Biology, vol.2, issue.11, 2010.
DOI : 10.1101/cshperspect.a003996

P. Lynch, J. Tong, M. Lehane, A. Mallet, L. Giblin et al., A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease, Proc. Natl. Acad. Sci, pp.4164-4169, 1999.
DOI : 10.1073/pnas.96.7.4164

M. Davis, E. Haan, H. Jungbluth, C. Sewry, K. North et al., Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene, M and Guicheney P. A recessive form of central core disease, transiently presenting as 21, pp.151-157, 2003.
DOI : 10.1016/S0960-8966(02)00218-3

H. Multi-minicore-disease-jungbluth, C. Muller, B. Halliger-keller, M. Brockington, S. Brown et al., is associated with a homozygous mutation in the ryanodine receptor type 1 gene Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores, Ann. Neurol. Neurology, vol.51, issue.59, pp.750-759, 2002.

N. Monnier, A. Ferreiro, I. Marty, A. Labarre-vila, P. Mezin et al., 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

D. Cauwer, H. Heytens, L. Martin, and J. , Workshop report of the 89th ENMC International Workshop: Central Core Disease, 19th???20th January 2001, Hilversum, The Netherlands, Neuromuscular Disorders, vol.12, issue.6, pp.588-595, 2001.
DOI : 10.1016/S0960-8966(02)00002-0

N. Romero, N. Monnier, L. Viollet, A. Cortey, M. Chevallay et al., 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

H. Jungbluth, Central core disease, Orphanet Journal of Rare Diseases, vol.2, issue.1, pp.25-47, 2007.
DOI : 10.1186/1750-1172-2-25
URL : https://hal.archives-ouvertes.fr/inserm-00383898

R. Dirksen and G. Avila, Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels? Trends Cardiovasc, Med, vol.12, pp.189-197, 2002.

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.319-326, 2008.
DOI : 10.1016/j.coph.2008.01.005

F. Ghassemi, M. Vukcevic, L. Xu, H. Zhou, G. Meissner et al., A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity, Cell Calcium, vol.45, issue.2, pp.192-197, 2009.
DOI : 10.1016/j.ceca.2008.10.001

R. Loy, M. Orynbayev, L. Xu, Z. Andronache, S. Apostol et al., ion permeation and release from the sarcoplasmic reticulum, The Journal of General Physiology, vol.76, issue.1, pp.43-57, 2011.
DOI : 10.1073/pnas.0912126106

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

N. Monnier, I. Marty, J. Faure, C. Castiglioni, C. Desnuelle et al., Null mutations causing depletion of 23

S. Oddoux, J. Brocard, A. Schweitzer, P. Szentesi, B. Giannesini et al., Triadin Deletion Induces Impaired Skeletal Muscle Function, Journal of Biological Chemistry, vol.284, issue.50, pp.34918-34947, 2009.
DOI : 10.1074/jbc.M109.022442
URL : https://hal.archives-ouvertes.fr/inserm-00516073

I. Marty, M. Robert, M. Villaz, Y. Lai, D. Jongh et al., Biochemical evidence for a complex involving dihydropyridine receptor and ryanodine receptor in triad junctions of skeletal muscle., Proc. Natl. Acad. Sci, pp.2270-2274, 1994.
DOI : 10.1073/pnas.91.6.2270

C. Zhu, V. Mouly, R. Cooper, K. Mamchaoui, A. Bigot et al., Cellular senescence in human myoblasts is overcome by human telomerase reverse transcriptase and cyclin-dependent kinase 4: consequences in aging muscle and therapeutic strategies for muscular dystrophies, Aging Cell, vol.20, issue.4, pp.515-523, 2007.
DOI : 10.1111/j.1474-9726.2007.00306.x

I. Marty, D. Thevenon, C. Scotto, S. Groh, S. Sainnier et al., Cloning and Characterization of a New Isoform of Skeletal Muscle Triadin, Journal of Biological Chemistry, vol.275, issue.11
DOI : 10.1074/jbc.275.11.8206

S. Rezgui, S. Vassilopoulos, J. Brocard, J. Platel, A. Bouron et al., Triadin (Trisk 95) Overexpression Blocks Excitation-Contraction Coupling in Rat Skeletal Myotubes, Journal of Biological Chemistry, vol.280, issue.47, pp.39302-39308, 2005.
DOI : 10.1074/jbc.M506566200
URL : https://hal.archives-ouvertes.fr/inserm-00381760

E. Lee, G. Cherednichenko, I. Pessah, and A. Pd, Functional Coupling between TRPC3 and RyR1 Regulates the Expressions of Key Triadic Proteins, Journal of Biological Chemistry, vol.281, issue.15, pp.10042-10048, 2006.
DOI : 10.1074/jbc.M600981200

X. Shen, C. Franzini-armstrong, J. Lopez, L. Jones, Y. Kobayashi et al., Triadins Modulate Intracellular Ca2+ Homeostasis but Are Not Essential for Excitation-Contraction Coupling in Skeletal Muscle, Journal of Biological Chemistry, vol.282, issue.52, pp.37864-7874, 2007.
DOI : 10.1074/jbc.M705702200

R. Medical and . Council, Aids to the investigation of the peripheral nervous system. London: Her Majesty's Stationary Office, 1943.

E. Buck, H. Nguyen, I. Pessah, and A. Pd, Dyspedic Mouse Skeletal Muscle Expresses Major Elements of the Triadic Junction but Lacks Detectable Ryanodine Receptor Protein and Function, Journal of Biological Chemistry, vol.272, issue.11, pp.7360-7367, 1997.
DOI : 10.1074/jbc.272.11.7360

R. Moore, H. Nguyen, J. Galceran, I. Pessah, and A. Pd, R Protein and Function, The Journal of Cell Biology, vol.39, issue.4, pp.843-851, 1998.
DOI : 10.1038/346567a0

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.4215-4220, 2001.
DOI : 10.1073/pnas.071048198

R. Quinlivan, C. Muller, M. Davis, N. Laing, G. Evans et al., Central core disease: clinical, pathological, and genetic features, Archives of Disease in Childhood, vol.88, issue.12, pp.1051-1055, 2003.
DOI : 10.1136/adc.88.12.1051

R. Zalk, O. Clarke, A. Georges, R. Grassucci, S. Reiken et al., Structure of a mammalian ryanodine receptor, Nature, vol.16, issue.7532, pp.44-49, 2015.
DOI : 10.1038/nature13950

Z. Yan, X. Bai, C. Yan, J. Wu, Z. Li et al., Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution, Nature, vol.25, issue.7532, pp.50-55, 2015.
DOI : 10.1038/nature14063

J. Lee, S. Rho, D. Shin, C. Cho, W. Park et al., Negatively Charged Amino Acids within the Intraluminal Loop of Ryanodine Receptor Are Involved in the Interaction with Triadin, Journal of Biological Chemistry, vol.279, issue.8, pp.6994-7000, 2004.
DOI : 10.1074/jbc.M312446200

E. Lee, D. Song, J. Lee, G. Meissner, P. Allen et al., Occurrence of atypical Ca2+ transients in triadin-binding deficient-RYR1 mutants, Biochemical and Biophysical Research Communications, vol.351, issue.4
DOI : 10.1016/j.bbrc.2006.10.115

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.2024-2036, 2007.
DOI : 10.1093/brain/awm096

N. Tilgen, F. Zorzato, B. Halliger-keller, F. Muntoni, C. Sewry et al., Identification of four 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 Molecular Genetics, vol.10, issue.25
DOI : 10.1093/hmg/10.25.2879