A. K. Afifi, J. W. Smith, and . Zellweger, Congenital nonprogressive myopathy: Central core disease and nemaline myopathy in one family, Neurology, vol.15, issue.4, pp.371-381, 1965.
DOI : 10.1212/WNL.15.4.371

G. Avila, J. J. O-'brien, and R. T. Dirksen, 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.98-4215, 2001.
DOI : 10.1073/pnas.071048198

K. G. Claeys, N. Monnier, P. Laforêt, G. Brochier, A. Ferreiro et al., Phenotypic spectrum of coreerod myopathy caused by dominant or recessive RYR1 mutations, Neuromuscul. Disord, vol.19, issue.556, 2009.

M. R. 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, Neuromuscular Disorders, vol.13, issue.2, pp.151-157, 2003.
DOI : 10.1016/S0960-8966(02)00218-3

B. De-vries, A. H. Stam, F. Beker, A. M. Van-den-maagdenberg, K. R. Vanmolkot et al., Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood, CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood, pp.887-891, 2008.
DOI : 10.1097/WCO.0b013e3281338d1f

L. F. Escobar, A. K. Hiett, and A. Marnocha, Significant phenotypic variability of Muenke syndrome in identical twins, American Journal of Medical Genetics Part A, vol.2, issue.6, pp.149-1273, 2009.
DOI : 10.1002/ajmg.a.32841

M. Fardeau, Caracteristiques cytochimiques et ultrasructurales des différents types de fibres musculaires squelettiques extra-fusales (chez l'homme et quelques mammiferes), Ann, Anat. Pathol, pp.18-25, 1973.

I. M. Gommans, M. Davis, K. Saar, M. Lammens, F. Mastaglia et al., A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions, Brain, vol.126, issue.7, pp.1545-1551, 2003.
DOI : 10.1093/brain/awg162

C. Graziano, E. Bertini, and B. Porfirio, De novo alpha-actin mutations in monozygotic twins, Clin. Genet, pp.68-91, 2005.

H. Jungbluth, C. A. Sewry, S. C. Brown, K. J. Nowak, N. G. Laing et al., Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle ??-actin (ACTA1) gene, Neuromuscular Disorders, vol.11, issue.1, pp.35-40, 2001.
DOI : 10.1016/S0960-8966(00)00167-X

P. J. 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 Ca 2þ release channel function and severe central core disease, Proc. Natl. Acad. Sci. U S A 96, 1999.

M. Meins, K. Brockmann, S. Yadav, M. Haupt, J. Sperner et al., Mutation in Monozygotic Twins and Novel Mutations in Two Other Patients, Neuropediatrics, vol.33, issue.4, 2002.
DOI : 10.1055/s-2002-34495

N. Monnier, A. Laquerrière, 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

N. Monnier, N. B. Romero, J. Lerale, Y. Nivoche, D. Qi et al., An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor, Human Molecular Genetics, vol.9, issue.18, pp.2599-2608, 2000.
DOI : 10.1093/hmg/9.18.2599

N. Monnier, N. B. Romero, J. Lerale, P. Landrieu, Y. Nivoche et al., Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor, Human Molecular Genetics, vol.10, issue.22, 2001.
DOI : 10.1093/hmg/10.22.2581

E. Pallagi, M. Molnár, P. Molnár, and P. Diószeghy, Central core and nemaline rods in the same patient, Acta Neuropathologica, vol.96, issue.2, pp.211-214, 1998.
DOI : 10.1007/s004010050884

R. Robinson, D. Carpenter, M. A. Shaw, J. Halsall, and P. Hopkins, Mutations in RYR1 in malignant hyperthermia and central core disease, Hum. Mutat, pp.27-977, 2006.

N. B. 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

N. B. Romero, Y. Nivoche, J. Lunardi, B. Bruneau, M. A. Cheval et al., Malignant hyperthermia and central core disease: Analysis of two families with heterogeneous clinical expression, Coreerod myopathy caused by mutations in the nebulin gene, pp.1159-1161, 1993.
DOI : 10.1016/0960-8966(93)90113-X

P. C. Scacheri, E. P. Hoffman, J. D. Fratkin, C. Semino-mora, A. Senchak et al., A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy, Neurology, vol.55, issue.11, pp.1689-1696, 2000.
DOI : 10.1212/WNL.55.11.1689

C. Thomas, Nemaline Rod and Central Core Disease, Journal of Neuropathology and Experimental Neurology, vol.55, issue.5, pp.893-896, 1997.
DOI : 10.1097/00005072-199605000-00261

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, 2001.
DOI : 10.1093/hmg/10.25.2879

J. M. Vallat, L. De-lumley, A. Loubet, M. J. Leboutet, N. Corvisier et al., Coexistence of minicores, cores, and rods in the same muscle biopsy, Acta Neuropathologica, vol.20, issue.3, pp.229-232, 1982.
DOI : 10.1007/BF00690806

M. V. Der-hagen, W. Kress, G. Hahn, K. S. Brocke, P. Mitzscherling et al., Novel RYR1 missense mutation causes core rod myopathy, Novel RYR1 missense mutation causes core rod myopathy, pp.31-32, 2008.
DOI : 10.1016/S0143-4160(02)00138-0

E. Zvaritch, F. Depreux, N. Kraeva, R. E. Loy, S. A. Goonasekera et al., An Ryr1I4895T mutation abolishes Ca 2þ release channel function and delays development in homozygous offspring of a mutant mouse line, Proc. Natl. Acad. Sci. U S A, pp.18537-18642, 2007.

E. Zvaritch, N. Kraeva, E. Bombardier, R. A. Mccloy, F. Depreux et al., Ca 2þ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods, Proc. Natl. Acad. Sci. U S A, 2009.

N. Sambuughin, S. Y. Kyle, and M. Olive, A new member of BTB/Kelch family of proteins is mutated in nemaline myopathy type 6 (NEM6) Abstract, Neuromuscular Disorders, vol.20, issue.638, 2010.