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Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: One gene, several proteins, multiple phenotypes. Lancet Neurol. 2003; 2:731-740.","DOI":"10.1016\/S1474-4422(03)00585-4"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Sadoulet-Puccio HM, Kunkel LM. Dystrophin and its isoforms. Brain Pathol. 1996; 6:25-35.","DOI":"10.1111\/j.1750-3639.1996.tb00780.x"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Nigro G, Politano L, Nigro V, Petretta VR, Comi LI. Mutation of dystrophin gene and cardiomyopathy. Neuromuscul Disord. 1994; 4:371-379.","DOI":"10.1016\/0960-8966(94)90073-6"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Rafael JA, Cox GA, Corrado K, Jung D, Campbell KP, Chamberlain JS. Forced expression of dystrophin deletion constructs reveals structure-function correlations. J Cell Biol. 1996; 134:93-102.","DOI":"10.1083\/jcb.134.1.93"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Corrado K, Rafael JA, Mills PL, Cole NM, Faulkner JA, Wang K, Chamberlain JS. Transgenic mdx mice expressing dystrophin with a deletion in the actin-binding domain display a "mild Becker" phenotype. J Cell Biol. 1996; 134:873-884.","DOI":"10.1083\/jcb.134.4.873"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Petrof BJ, Shrager JB, Stedman HH, Kelly AM, Sweeney HL. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci U S A. 1993; 90:3710-3714.","DOI":"10.1073\/pnas.90.8.3710"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Wallace GQ, McNally EM. Mechanisms of muscle degeneration, regeneration and repair in the muscular dystrophies. Annu Rev Physiol. 2009; 71:37-57.","DOI":"10.1146\/annurev.physiol.010908.163216"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Obler D, Wu BL, Lip V, Estrella E, Keck S, Haggan C, Semigran M, Smoot LB. 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Passamano L, Taglia A, Palladino A, Viggiano E, D'Ambrosio P, Scutifero M, Rosaria Cecio M, Torre V, DE Luca F, Picillo E, Paciello O, Piluso G, Nigro G, Politano L. Improvement of survival in Duchenne muscular dystrophy: Retrospective analysis of 835 patients. Acta Myol. 2012; 31:121-125."},{"key":"13","unstructured":"13. Politano L, Nigro G. Treatment of dystrophinopathic cardiomyopathy: Review of the literature and personal results. Acta Myol. 2012; 31:24-30."},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Jefferies JL, Eidem BW, Belmont JW, Craigen WJ, Ware SM, Fernbach SD, Neish SR, Smith EO, Towbin JA. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation. 2005; 112:2799-2804.","DOI":"10.1161\/CIRCULATIONAHA.104.528281"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Nigro G, Comi LI, Politano L, Nigro V. Dilated cardiomyopathy of muscular dystrophy: A multifaceted approach to management. 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