K. M. Bushby, D. Gardner-medwin, L. V. Nicholson, M. A. Johnson, I. D. Haggerty et al., The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy, Journal of Neurology, vol.39, issue.2, pp.105-112, 1993.
DOI : 10.1007/BF00858726

A. Monaco, C. Bertelson, S. Liechti-gallati, H. Moser, and L. Kunkel, An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus, Genomics, vol.2, issue.1, pp.90-95, 1988.
DOI : 10.1016/0888-7543(88)90113-9

A. M. Norman, N. S. Thomas, H. M. Kingston, and P. S. Harper, Becker muscular dystrophy: correlation of deletion type with clinical severity., Journal of Medical Genetics, vol.27, issue.4, pp.236-239, 1990.
DOI : 10.1136/jmg.27.4.236

K. Campbell and S. Kahl, Association of dystrophin and an integral membrane glycoprotein, Nature, vol.338, issue.6212, pp.259-262, 1989.
DOI : 10.1038/338259a0

L. M. Hanft, D. J. Bogan, U. Mayer, S. J. Kaufman, J. N. Kornegay et al., Cytoplasmic ??-actin expression in diverse animal models of muscular dystrophy, Neuromuscular Disorders, vol.17, issue.7, pp.569-574, 2007.
DOI : 10.1016/j.nmd.2007.03.004

L. Rumeur, E. Winder, S. J. , H. , and J. F. , Dystrophin: More than just the sum of its parts, Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics, vol.1804, issue.9, pp.1713-1722, 2010.
DOI : 10.1016/j.bbapap.2010.05.001

URL : https://hal.archives-ouvertes.fr/hal-00592430

A. Aartsma-rus, J. C. Van-deutekom, I. F. Fokkema, G. J. Van-ommen, D. Dunnen et al., Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule, Muscle & Nerve, vol.56, issue.2, pp.135-144, 2006.
DOI : 10.1002/mus.20586

P. J. Taylor, S. Maroulis, G. L. Mullan, R. L. Pedersen, A. Baumli et al., Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy, Journal of Medical Genetics, vol.44, issue.6, pp.368-372, 2007.
DOI : 10.1136/jmg.2006.047464

K. M. Flanigan, D. M. Dunn, A. Von-niederhausern, P. Soltanzadeh, E. Gappmaier et al., Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort, Human Mutation, vol.23, issue.12, pp.1657-1666, 2009.
DOI : 10.1002/humu.21114

O. L. Gurvich, B. Maiti, R. B. Weiss, G. Aggarwal, M. T. Howard et al., exon 1 truncating point mutations: Amelioration of phenotype by alternative translation initiation in exon 6, Human Mutation, vol.16, issue.4, pp.633-640, 2009.
DOI : 10.1002/humu.20913

K. M. Flanigan, D. M. Dunn, A. Von-niederhausern, P. Soltanzadeh, M. T. Howard et al., Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene, Human Mutation, vol.18, issue.3, pp.299-308, 2011.
DOI : 10.1002/humu.21426

M. Kinali, V. Arechavala-gomeza, L. Feng, S. Cirak, D. Hunt et al., Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study, The Lancet Neurology, vol.8, issue.10, pp.918-928, 2009.
DOI : 10.1016/S1474-4422(09)70211-X

G. L. Odom, G. B. Banks, B. R. Schultz, P. Gregorevic, and C. , Preclinical Studies for Gene Therapy of Duchenne Muscular Dystrophy, Journal of Child Neurology, vol.25, issue.9, pp.1149-1157, 2011.
DOI : 10.1177/0883073810371006

S. A. Moore, C. J. Shilling, S. Westra, C. Wall, M. P. Wicklund et al., Limb-Girdle Muscular Dystrophy in the United States, Journal of Neuropathology and Experimental Neurology, vol.65, issue.10, pp.995-1003, 2006.
DOI : 10.1097/01.jnen.0000235854.77716.6c

S. J. Winder, T. J. Gibson, K. , and J. , Dystrophin and utrophin: the missing links!, FEBS Letters, vol.288, issue.1, pp.27-33, 1995.
DOI : 10.1016/0014-5793(95)00398-S

E. Kahana and W. B. Gratzer, Minimum folding unit of dystrophin rod domain, Biochemistry, vol.34, issue.25, pp.8110-8114, 1995.
DOI : 10.1021/bi00025a017

S. Legardinier, C. Raguénès-nicol, C. Tascon, C. Rocher, S. Hardy et al., Mapping of the Lipid-Binding and Stability Properties of the Central Rod Domain of Human Dystrophin, Journal of Molecular Biology, vol.389, issue.3, pp.546-558, 2009.
DOI : 10.1016/j.jmb.2009.04.025

URL : https://hal.archives-ouvertes.fr/inserm-00404317

S. Legardinier, B. Legrand, C. Raguénès-nicol, A. Bondon, S. Hardy et al., A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin, Journal of Biological Chemistry, vol.284, issue.13, pp.8822-8832, 2009.
DOI : 10.1074/jbc.M805846200

URL : https://hal.archives-ouvertes.fr/inserm-00365879

H. Kusunoki, G. Minasov, R. Macdonald, and A. Mondragon, Independent Movement, Dimerization and Stability of Tandem Repeats of Chicken Brain ??-Spectrin, Journal of Molecular Biology, vol.344, issue.2, pp.495-511, 2004.
DOI : 10.1016/j.jmb.2004.09.019

A. Lupas, R. Sankararamakrishnan, and S. Vishveshwara, Coiled coils: new structures and new functions, Trends in Biochemical Sciences, vol.21, issue.10, pp.375-382, 1993.
DOI : 10.1016/S0968-0004(96)10052-9

URL : http://hdl.handle.net/11858/00-001M-0000-0010-72D0-6

F. S. Cordes, J. N. Bright, and M. S. Sansom, Proline-induced Distortions of Transmembrane Helices, Journal of Molecular Biology, vol.323, issue.5, pp.951-960, 2002.
DOI : 10.1016/S0022-2836(02)01006-9

J. Rey, J. Deville, and M. Chabbert, Structural determinants stabilizing helical distortions related to proline, Journal of Structural Biology, vol.171, issue.3, pp.266-276, 2010.
DOI : 10.1016/j.jsb.2010.05.002

K. A. Hart, S. Hodgson, A. Walker, C. G. Cole, L. Johnson et al., DNA deletions in mild and severe Becker muscular dystrophy, Human Genetics, vol.224, issue.3, pp.281-285, 1987.
DOI : 10.1007/BF00281075

R. Yokota, M. Shirotani, I. Kouchi, T. Hirai, N. Uemori et al., Subclinical Becker's Muscular Dystrophy Presenting with Severe Heart Failure, Internal Medicine, vol.43, issue.3, pp.204-208, 2004.
DOI : 10.2169/internalmedicine.43.204

S. M. Singh, N. Kongari, J. Cabello-villegas, and K. M. Mallela, Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-?? aggregates, Proceedings of the National Academy of Sciences, vol.107, issue.34, pp.15069-15074, 2010.
DOI : 10.1073/pnas.1008818107

D. M. Henderson, A. Lee, and J. M. Ervasti, Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation, Proceedings of the National Academy of Sciences, vol.107, issue.21, pp.9632-9637, 2010.
DOI : 10.1073/pnas.1001517107

R. D. Bies, C. T. Caskey, and R. Fenwick, An intact cysteine-rich domain is required for dystrophin function., Journal of Clinical Investigation, vol.90, issue.2, pp.666-672, 1992.
DOI : 10.1172/JCI115909

R. W. Kaspar, H. D. Allen, W. C. Ray, C. E. Alvarez, J. T. Kissel et al., Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy, Circulation: Cardiovascular Genetics, vol.2, issue.6, pp.544-551, 2009.
DOI : 10.1161/CIRCGENETICS.109.867242

N. Ahmed, T. Nguyen, and G. Morris, Flexible hinges in dystrophin, Biochemical Society Transactions, vol.26, issue.3, p.310, 1998.
DOI : 10.1042/bst026s310

R. Bartlett, S. Stockinger, M. Denis, W. Bartlett, L. Inverardi et al., In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/DNA oligonucleotide, Nature Biotechnology, vol.86, issue.6, pp.615-622, 2000.
DOI : 10.1038/76448

D. Souza, V. Nguyen, T. Morris, G. Karges, W. Pillers et al., A novel dystrophin isoform is required for normal retinal electrophysiology, Human Molecular Genetics, vol.4, issue.5, pp.837-842, 1995.
DOI : 10.1093/hmg/4.5.837

J. Ellis, T. Nguyen, G. Morris, I. Ginjaar, A. Moorman et al., Specificity of dystrophin analysis improved with monoclonal antibodies, The Lancet, vol.336, issue.8719, pp.881-882, 1990.
DOI : 10.1016/0140-6736(90)92392-U

D. Lederfein, Z. Levy, N. Augier, J. Leger, G. Morris et al., 71kD protein is a major product of the Duchenne Muscular Dystrophy gene in brain and other non-muscle tissues, Proc. Natl. Acad. Sci. USA, pp.5346-5350, 1992.

G. Morris, C. Nguyen, and T. Nguyen, sequence of two monoclonal antibodies against the N-terminus of dystrophin, Biochemical Journal, vol.309, issue.1, pp.355-359, 1995.
DOI : 10.1042/bj3090355

T. Nguyen, A. Cartwright, G. Morris, D. Love, J. Bloomfield et al., Monoclonal antibodies against defined regions of the muscular dystrophy protein, dystrophin, FEBS Lett, vol.262, pp.237-240, 1990.

T. Nguyen and G. Morris, Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy, Am J Hum Genet, vol.52, pp.1057-1066, 1993.

T. Nguyen, I. Ginjaar, G. Van-ommen, and G. Morris, Monoclonal antibodies for dystrophin analysis. Epitope mapping and improved binding to SDS-treated muscle sections, Biochemical Journal, vol.288, issue.2, pp.663-668, 1992.
DOI : 10.1042/bj2880663

L. Thanh, T. Nguyen, S. Hori, C. Sewry, V. Dubowitz et al., Characterization of genetic deletions in becker muscular dystrophy using monoclonal antibodies against a deletion-prone region of dystrophin, American Journal of Medical Genetics, vol.22, issue.2, pp.177-186, 1995.
DOI : 10.1002/ajmg.1320580217