. Ghu-la-pitié-salpêtrière, Institut de Myologie, Paris F-75013, France. 5 Centre de référence de Pathologie Neuromusculaire Paris-Est, Helsinki, and the Folkhälsan Institute of Genetics Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Université Versailles Saint-Quentin en Yvelines (UVSQ) 10 Hospital Nacional de Pediatría J.P

N. Romero, S. Sandaradura, and N. Clarke, Recent advances in nemaline myopathy, Current Opinion in Neurology, vol.26, issue.5, pp.519-526, 2013.
DOI : 10.1097/WCO.0b013e328364d681

K. Nowak, D. Wattanasirichaigoon, H. Goebel, M. Wilce, K. Pelin et al., Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy, Nat Genet, vol.23, issue.2, pp.208-212, 1999.

K. Pelin, P. Hilpelä, K. Donner, C. Sewry, P. Akkari et al., 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

K. Donner, M. Ollikainen, M. Ridanpää, H. Christen, H. Goebel et al., Mutations in the ??-tropomyosin (TPM2) gene ??? a rare cause of nemaline myopathy, Neuromuscular Disorders, vol.12, issue.2, pp.151-158, 2002.
DOI : 10.1016/S0960-8966(01)00252-8

N. Laing, S. Wilton, P. Akkari, S. Dorosz, K. Boundy et al., A mutation in the ?? tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy, Nature Genetics, vol.328, issue.1, pp.75-79, 1995.
DOI : 10.1038/ng0195-75

J. Johnston, R. Kelley, T. Crawford, D. Morton, R. Agarwala et al., A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1, The American Journal of Human Genetics, vol.67, issue.4, pp.814-821, 2000.
DOI : 10.1086/303089

P. Agrawal, R. Greenleaf, K. Tomczak, V. Lehtokari, C. Wallgren-pettersson et al., Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin???Binding Protein, Cofilin-2, The American Journal of Human Genetics, vol.80, issue.1, pp.162-167, 2006.
DOI : 10.1086/510402

N. Sambuughin, K. Yau, M. Olivé, R. Duff, M. Bayarsaikhan et al., Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores Erratum in, Am J Hum Genet Am J Hum Genet, vol.8788, issue.61, pp.842-847122, 2010.

G. Ravenscroft, S. Miyatake, V. Lehtokari, E. Todd, P. Vornanen et al., Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy, The American Journal of Human Genetics, vol.93, issue.1, pp.6-18, 2013.
DOI : 10.1016/j.ajhg.2013.05.004

V. Gupta, G. Ravenscroft, R. Shaheen, E. Todd, L. Swanson et al., Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy, The American Journal of Human Genetics, vol.93, issue.6, pp.1108-1117, 2013.
DOI : 10.1016/j.ajhg.2013.10.020

C. Wallgren-pettersson, C. Sewry, K. Nowak, and N. Laing, Nemaline Myopathies, Seminars in Pediatric Neurology, vol.18, issue.4, pp.230-238, 2011.
DOI : 10.1016/j.spen.2011.10.004

K. Donner, M. Sandbacka, V. Lehtokari, C. Wallgren-pettersson, and K. Pelin, Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts, European Journal of Human Genetics, vol.12, issue.9, pp.744-751, 2004.
DOI : 10.1038/sj.ejhg.5201242

K. Pelin and C. Wallgren-pettersson, Nebulin???A Giant Chameleon, Adv Exp Med Biol, vol.642, pp.28-39, 2008.
DOI : 10.1007/978-0-387-84847-1_3

J. Böhm, N. Vasli, E. Malfatti, L. Gras, S. Feger et al., An Integrated Diagnosis Strategy for Congenital Myopathies, PLoS ONE, vol.125, issue.6, 2013.
DOI : 10.1371/journal.pone.0067527.s007

K. Kiiski, L. Laari, V. Lehtokari, M. Lunkka-hytönen, C. Angelini et al., Targeted array comparative genomic hybridization ??? A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes, Neuromuscular Disorders, vol.23, issue.1, pp.56-65, 2012.
DOI : 10.1016/j.nmd.2012.07.007

V. Lehtokari, K. Pelin, M. Sandbacka, S. Ranta, K. Donner et al., Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy, Human Mutation, vol.271, issue.9, pp.946-956, 2006.
DOI : 10.1002/humu.20370

N. Romero and N. Clarke, Congenital myopathies, Handb Clin Neurol Review, vol.113, pp.1321-1336, 2013.
DOI : 10.1016/B978-0-444-59565-2.00004-6
URL : https://hal.archives-ouvertes.fr/inserm-00904638

J. Gurgel-giannetti, U. Reed, S. Marie, E. Zanoteli, M. Fireman et al., Rod distribution and muscle fiber type modification in the progression of nemaline myopathy, J Child Neurol, vol.18, issue.3, pp.235-240, 2003.

M. Fardeau, Study of a new observation of ?Nemaline Myopathy???, Acta Neuropathologica, vol.13, issue.3, pp.250-266, 1969.
DOI : 10.1007/BF00690645

K. North, N. Laing, and C. Wallgren-pettersson, Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy., Journal of Medical Genetics, vol.34, issue.9, pp.705-713, 1997.
DOI : 10.1136/jmg.34.9.705

H. Goebel, Congenital myopathies, Seminars in Pediatric Neurology, vol.3, issue.2, pp.152-161, 1996.
DOI : 10.1016/S1071-9091(96)80043-X

M. Ryan, B. Ilkovski, C. Strickland, C. Schnell, D. Sanoudou et al., Clinical course correlates poorly with muscle pathology in nemaline myopathy, Neurology, vol.60, issue.4, pp.665-673, 2003.
DOI : 10.1212/01.WNL.0000046585.81304.BC

M. Fardeau, Congenital myopathies Skeletal muscle pathology, pp.161-203, 1982.

C. Wallgren-pettersson, J. Rapola, and M. Donner, Pathology of congenital nemaline myopathy. A follow-up study, J Neurol Sci, vol.83, pp.2-3243, 1988.

V. Lehtokari, R. Greenleaf, E. Dechene, M. Kellinsalmi, K. Pelin et al., The exon 55 deletion in the nebulin gene ??? One single founder mutation with world-wide occurrence, Neuromuscular Disorders, vol.19, issue.3, pp.179-181, 2009.
DOI : 10.1016/j.nmd.2008.12.001

N. Vasli, J. Böhm, L. Gras, S. Muller, J. Pizot et al., Next generation sequencing for molecular diagnosis of neuromuscular diseases, Acta Neuropathologica, vol.11, issue.2, pp.273-283, 2012.
DOI : 10.1007/s00401-012-0982-8

S. Minobu, V. B. Michel, F. Jean-yves, H. Makiko, O. et al., Romero Norma Beatriz Extensive morphological and immunohistochemical characterization in myotubular myopathy, Brain and Behavior, vol.7, pp.476-486, 2013.

V. Dubowitz, A. Oldfors, C. Sewry, E. Farkas-bargeton, M. Diebler et al., Muscle biopsy A practical approach 4th edition) Histochemical, quantitative and ultrastructural maturation of human fetal muscle, J Neurol Sci, vol.30, issue.312, pp.245-259, 1977.

N. Romero, M. Mezmezian, and A. Fidzianska, Main steps of skeletal muscle development in the human, Pediatric Neurology Part III. Handbook of Clinical Neurology, vol.113, pp.1299-1301, 2013.
DOI : 10.1016/B978-0-444-59565-2.00002-2

C. Ottenheijm, C. Witt, G. Stienen, S. Labeit, A. Beggs et al., Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency, Human Molecular Genetics, vol.18, issue.13, pp.2359-69, 2009.
DOI : 10.1093/hmg/ddp168

C. Ottenheijm, P. Hooijman, E. Dechene, G. Stienen, A. Beggs et al., Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2), Journal of Structural Biology, vol.170, issue.2, pp.334-343, 2010.
DOI : 10.1016/j.jsb.2009.11.013

M. Caremani, J. Dantzig, Y. Goldman, V. Lombardi, and M. Linari, Effect of Inorganic Phosphate on the Force and Number of Myosin Cross-Bridges During the Isometric Contraction of Permeabilized Muscle Fibers from Rabbit Psoas, Biophysical Journal, vol.95, issue.12, pp.5798-5808, 2008.
DOI : 10.1529/biophysj.108.130435

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

M. Lawlor, C. Ottenheijm, V. Lehtokari, K. Cho, K. Pelin et al., Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy, Skeletal Muscle, vol.1, issue.1, pp.23-33, 2011.
DOI : 10.1073/pnas.83.10.3542

J. Winter, D. Buck, C. Hidalgo, J. Jasper, F. Malik et al., Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations, Journal of Medical Genetics, vol.185, issue.6, pp.383-392, 2013.
DOI : 10.1136/jmedgenet-2012-101470

S. Millevoi, K. Trombitas, B. Kolmerer, S. Kostin, J. Schaper et al., Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs, Journal of Molecular Biology, vol.282, issue.1, pp.111-123, 1998.
DOI : 10.1006/jmbi.1998.1999

C. Ottenheijm and H. Granzier, New Insights into the Structural Roles of Nebulin in Skeletal Muscle, Journal of Biomedicine and Biotechnology, vol.109, issue.11, pp.968139-968149, 2010.
DOI : 10.1091/mbc.E07-07-0690

C. Sewry, The role of immunocytochemistry in congenital myopathies, Neuromuscular Disorders, vol.8, issue.6, pp.394-400, 1998.
DOI : 10.1016/S0960-8966(98)00053-4

C. Wallgren-pettersson, K. Donner, C. Sewry, E. Bijlsma, M. Lammens et al., Mutations in the nebulin gene can cause severe congenital nemaline myopathy, Neuromuscular Disorders, vol.12, issue.7-8, pp.7-8674, 2002.
DOI : 10.1016/S0960-8966(02)00065-2

N. Romero and M. Bitoun, Centronuclear Myopathies, Seminars in Pediatric Neurology, vol.18, issue.4, pp.250-256, 2011.
DOI : 10.1016/j.spen.2011.10.006

. Malfatti, Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype, Acta Neuropathologica Communications, vol.18, issue.4, p.44, 2014.
DOI : 10.1016/j.spen.2011.10.006
URL : https://hal.archives-ouvertes.fr/inserm-00987739