References

Abmayr, S., Gregorevic, P., Allen, J.M., and Chamberlain, J.S. (2005). Phenotypic improvement of dystrophic muscles by rAAV/microdystrophin vectors is augmented by Igf1 codelivery. Mol Ther 12, 441-450.

Ahn, A.H., and Kunkel, L.M. (1993). The structural and functional diversity of dystrophin. Nat Genet 3, 283-291.

Allocca, M., Doria, M., Petrillo, M., Colella, P., Garcia-Hoyos, M., Gibbs, D., Kim, S.R., Maguire, A., Rex, T.S., Di Vicino, U., et al. (2008). Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice. J Clin Invest 118, 1955-1964.

Alter, J., Lou, F., Rabinowitz, A., Yin, H., Rosenfeld, J., Wilton, S.D., Partridge, T.A., and Lu, Q.L. (2006). Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology. Nat Med 12, 175-177.

American Academy of Pediatrics. (2005). Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. Pediatrics 116, 1569-1573.

Angelini, C., Fanin, M., Freda, M.P., Martinello, F., Miorin, M., Melacini, P., Siciliano, G., Pegoraro, E., Rosa, M., and Danieli, G.A. (1996). Prognostic factors in mild dystrophinopa-thies. J Neurol Sci 142, 70-78.

Arahata, K., Ishihara, T., Kamakura, K., Tsukahara, T., Ishiura, S., Baba, C., Matsumoto, T., Nonaka, I., and Sugita, H. (1989). Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy. N Engl J Med 320, 138-142.

Beggs, A.H., Hoffman, E.P., Snyder, J.R., Arahata, K., Specht, L., Shapiro, F., Angelini, C., Sugita, H., and Kunkel, L.M. (1991). Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 49, 54-67.

Blake, D.J., Weir, A., Newey, S.E., and Davies, K.E. (2002). Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 82, 291-329.

Blankinship, M.J., Gregorevic, P., and Chamberlain, J.S. (2006). Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated viral vectors. Mol Ther 13, 241-249.

Bostick, B., Ghosh, A., Yue, Y., Long, C., and Duan, D. (2007). Systemic AAV-9 transduction in mice is influenced by animal age but not by the route of administration. Gene Ther 14, 1605-1609.

Bostick, B., Yue, Y., Lai, Y., Long, C., Li, D., and Duan, D. (2008a). Adeno-associated virus serotype-9 microdystrophin gene therapy ameliorates electrocardiographic abnormalities in mdx mice. Hum Gene Ther 19, 851-856.

Bostick, B., Yue, Y., Long, C., and Duan, D. (2008b). Prevention of dystrophin-deficient cardio-myopathy in twenty-one-month-old carrier mice by mosaic dystrophin expression or complementary dystrophin/utrophin expression. Circ Res 102, 121-130.

Bostick, B., Yue, Y., Long, C., Marschalk, N., Fine, D.M., Chen, J., and Duan, D. (2009). Cardiac expression of a mini-dystrophin that normalizes skeletal muscle force only partially restores heart function in aged Mdx mice. Mol Ther 17, 253-261.

Bridges, L.R. (1986). The association of cardiac muscle necrosis and inflammation with the degenerative and persistent myopathy of MDX mice. J Neurol Sci 72, 147-157.

Brockmeier, K., Schmitz, L., von Moers, A., Koch, H., Vogel, M., and Bein, G. (1998). X-chromosomal (p21) muscular dystrophy and left ventricular diastolic and systolic function. Pediatr Cardiol 19, 139-144.

Bulfield, G., Siller, W.G., Wight, P.A., and Moore, K.J. (1984). X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc Natl Acad Sci U S A 81, 1189-1192.

Bushby, K., Muntoni, F., and Bourke, J.P. (2003). 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands. Neuromuscul Disord 13, 166-172.

Chamberlain, J.S., Metzger, J., Reyes, M., Townsend, D., and Faulkner, J.A. (2007). Dystrophin-deficient mdx mice display a reduced life span and are susceptible to spontaneous rhabdomyo-sarcoma. Faseb J 21, 2195-2204.

Chetboul, V., Carlos, C., Blot, S., Thibaud, J.L., Escriou, C., Tissier, R., Retortillo, J.L., and Pouchelon, J.L. (2004a). Tissue Doppler assessment of diastolic and systolic alterations of radial and longitudinal left ventricular motions in Golden Retrievers during the preclinical phase of cardiomyopathy associated with muscular dystrophy. Am J Vet Res 65, 1335-1341.

Chetboul, V., Escriou, C., Tessier, D., Richard, V., Pouchelon, J.L., Thibault, H., Lallemand, F., Thuillez, C., Blot, S., and Derumeaux, G. (2004b). Tissue Doppler imaging detects early asymptomatic myocardial abnormalities in a dog model of Duchenne's cardiomyopathy. Eur Heart J 25, 1934-1939.

Chu, V., Otero, J.M., Lopez, O., Sullivan, M.F., Morgan, J.P., Amende, I., and Hampton, T.G. (2002). Electrocardiographic findings in mdx mice: a cardiac phenotype of Duchenne muscular dystrophy. Muscle Nerve 26, 513-519.

Clemens, P.R., Krause, T.L., Chan, S., Korb, K.E., Graham, F.L., and Caskey, C.T. (1995). Recombinant truncated dystrophin minigenes: construction, expression, and adenoviral delivery. Hum Gene Ther 6, 1477-1485.

Cohen, N., and Muntoni, F. (2004). Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. Heart 90, 835-841.

Cohn, R.D., Durbeej, M., Moore, S.A., Coral-Vazquez, R., Prouty, S., and Campbell, K.P. (2001). Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sar-cospan complex. J Clin Invest 107, R1-R7.

Cooper, B.J., Winand, N.J., Stedman, H., Valentine, B.A., Hoffman, E.P., Kunkel, L.M., Scott, M.O., Fischbeck, K.H., Kornegay, J.N., Avery, R.J., et al. (1988). The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature 334, 154-156.

Coulton, G.R., Morgan, J.E., Partridge, T.A., and Sloper, J.C. (1988). The mdx mouse skeletal muscle myopathy: I. A histological, morphometric and biochemical investigation. Neuropathol Appl Neurobiol 14, 53-70.

Danialou, G., Comtois, A.S., Dudley, R., Karpati, G., Vincent, G., Des Rosiers, C., and Petrof, B.J. (2001). Dystrophin-deficient cardiomyocytes are abnormally vulnerable to mechanical stress-induced contractile failure and injury. Faseb J 15, 1655-1657.

Deconinck, A.E., Rafael, J.A., Skinner, J.A., Brown, S.C., Potter, A.C., Metzinger, L., Watt, D.J., Dickson, J.G., Tinsley, J.M., and Davies, K.E. (1997). Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy. Cell 90, 717-727.

Duan, D. (2006a). Challenges and opportunities in dystrophin-deficient cardiomyopathy gene therapy. Hum Mol Genet 15 Suppl 2, R253-R261.

Duan, D. (2006b). From the smallest virus to the biggest gene: marching towards gene therapy for duchenne muscular dystrophy. Discov Med 6, 103-108.

Duan, D., Yan, Z., and Engelhardt, J.F. (2006). Expanding the capacity of AAV vectors. In Parvoviruses, M.E. Bloom, S.F. Cotmore, R.M. Linden, C.R. Parrish, and J.R. Kerr, eds. (London New York, Hodder Arnold; Distributed in the U.S.A. by Oxford University Press), pp. 525-532.

Duan, D., Yue, Y., and Engelhardt, J.F. (2001). Expanding AAV packaging capacity with trans-splicing or overlapping vectors: a quantitative comparison. Mol Ther 4, 383-391.

Duan, D., Yue, Y., and Engelhardt, J.F. (2002). Adeno-associated virus. In Lung Biology in Health and Disease, Gene Therapy in Lung Disease, S.M. Albelda, ed. (New York, NY, Marcel Dekker Inc.), pp. 51-92.

Emery, A.E. (1969). Abnormalities of the electrocardiogram in female carriers of Duchenne muscular dystrophy. Br Med J 2, 418-420.

England, S.B., Nicholson, L.V., Johnson, M.A., Forrest, S.M., Love, D.R., Zubrzycka-Gaarn, E.E., Bulman, D.E., Harris, J.B., and Davies, K.E. (1990). Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature 343, 180-182.

Ervasti, J.M., and Sonnemann, K.J. (2008). Biology of the striated muscle dystrophin-glycopro-tein complex. Int Rev Cytol 265, 191-225.

Fabb, S.A., Wells, D.J., Serpente, P., and Dickson, G. (2002). Adeno-associated virus vector gene transfer and sarcolemmal expression of a 144 kDa micro-dystrophin effectively restores the dystrophin- associated protein complex and inhibits myofibre degeneration in nude/mdx mice. Hum Mol Genet 11, 733-741.

Finsterer, J., Bittner, R.E., and Grimm, M. (1999). Cardiac involvement in Becker's muscular dystrophy, necessitating heart transplantation, 6 years before apparent skeletal muscle involvement. Neuromuscul Disord 9, 598-600.

Finsterer, J., and Stollberger, C. (2003). The heart in human dystrophinopathies. Cardiology 99, 1-19.

Foster, H., Sharp, P.S., Athanasopoulos, T., Trollet, C., Graham, I.R., Foster, K., Wells, D.J., and Dickson, G. (2008). Codon and mRNA sequence optimization of microdystrophin transgenes improves expression and physiological outcome in dystrophic mdx mice following AAV2/8 gene transfer. Mol Ther 16, 1825-1832.

Frankel, K.A., and Rosser, R.J. (1976). The pathology of the heart in progressive muscular dystrophy: epimyocardial fibrosis. Hum Pathol 7, 375-386.

Gaedigk, R., Law, D.J., Fitzgerald-Gustafson, K.M., McNulty, S.G., Nsumu, N.N., Modrcin, A.C., Rinaldi, R.J., Pinson, D., Fowler, S.C., Bilgen, M., et al. (2006). Improvement in survival and muscle function in an mdx/utrn(-/-) double mutant mouse using a human retinal dystrophin transgene. Neuromuscul Disord 16, 192-203.

Ghosh, A., and Duan, D. (2007). Expending adeno-associated viral vector capacity: a tale of two vectors. Biotechnol Genet Eng Rev 24, 165-177.

Ghosh, A., Yue, Y., Lai, Y., and Duan, D. (2008). A hybrid vector system expands aden-associated viral vector packaging capacity in a transgene independent manner. Mol Ther 16, 124-130.

Ghosh, A., Yue, Y., Long, C., Bostick, B., and Duan, D. (2007). Efficient whole-body transduction with trans-splicing adeno-associated viral vectors. Mol Ther 15, 750-755.

Grady, R.M., Grange, R.W., Lau, K.S., Maimone, M.M., Nichol, M.C., Stull, J.T., and Sanes, J.R. (1999). Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies. Nat Cell Biol 1, 215-220.

Grady, R.M., Teng, H., Nichol, M.C., Cunningham, J.C., Wilkinson, R.S., and Sanes, J.R. (1997). Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy. Cell 90, 729-738.

Grain, L., Cortina-Borja, M., Forfar, C., Hilton-Jones, D., Hopkin, J., and Burch, M. (2001). Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls. Neuromuscul Disord 11, 186-191.

Gregorevic, P., Allen, J.M., Minami, E., Blankinship, M.J., Haraguchi, M., Meuse, L., Finn, E., Adams, M.E., Froehner, S.C., Murry, C.E., et al. (2006). rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice. Nat Med 12, 787-789.

Gregorevic, P., Blankinship, M.J., Allen, J.M., Crawford, R.W., Meuse, L., Miller, D.G., Russell, D.W., and Chamberlain, J.S. (2004). Systemic delivery of genes to striated muscles using adeno-associated viral vectors. Nat Med 10, 828-834.

Grieger, J.C., and Samulski, R.J. (2005). Packaging capacity of adeno-associated virus serotypes: impact of larger genomes on infectivity and postentry steps. J Virol 79, 9933-9944.

Guo, C., Willem, M., Werner, A., Raivich, G., Emerson, M., Neyses, L., and Mayer, U. (2006). Absence of alpha7 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophy. Hum Mol Genet 15, 989-998.

Hainsey, T.A., Senapati, S., Kuhn, D.E., and Rafael, J.A. (2003). Cardiomyopathy features associated with muscular dystrophy are independent of dystrophin absence in cardiovasculature. Neuromuscul Disord 13, 294-302.

Halbert, C.L., Allen, J.M., and Miller, A.D. (2002). Efficient mouse airway transduction following recombination between AAV vectors carrying parts of a larger gene. Nat Biotechnol 20, 697-701.

Harper, S.Q., Hauser, M.A., DelloRusso, C., Duan, D., Crawford, R.W., Phelps, S.F., Harper, H.A., Robinson, A.S., Engelhardt, J.F., Brooks, S.V., et al. (2002). Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. Nat Med 8, 253-261.

Herzog, R.W., Mount, J.D., Arruda, V.R., High, K.A., and Lothrop, C.D., Jr. (2001). Muscle-directed gene transfer and transient immune suppression result in sustained partial correction of canine hemophilia B caused by a null mutation. Mol Ther 4, 192-200.

Heymsfield, S.B., McNish, T., Perkins, J.V., and Felner, J.M. (1978). Sequence of cardiac changes in Duchenne muscular dystrophy. Am Heart J 95, 283-294.

Hoffman, E.P. (1993). Genotype/phenotype correlations in Duchenne/Becker dystrophy. Mol Cell Biol Hum Dis Ser 3, 12-36.

Hoffman, E.P., Fischbeck, K.H., Brown, R.H., Johnson, M., Medori, R., Loike, J.D., Harris, J.B., Waterston, R., Brooke, M., Specht, L., et al. (1988). Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 318, 1363-1368.

Holloway, S.M., Wilcox, D.E., Wilcox, A., Dean, J.C., Berg, J.N., Goudie, D.R., Denvir, M.A., and Porteous, M.E. (2008). Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland. Heart 94, 633-636.

Hoogerwaard, E.M., Bakker, E., Ippel, P.F., Oosterwijk, J.C., Majoor-Krakauer, D.F., Leschot, N.J., Van Essen, A.J., Brunner, H.G., van der Wouw, P.A., Wilde, A.A., et al. (1999a). Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 353, 2116-2119.

Hoogerwaard, E.M., van der Wouw, P.A., Wilde, A.A., Bakker, E., Ippel, P.F., Oosterwijk, J.C., Majoor-Krakauer, D.F., van Essen, A.J., Leschot, N.J., and de Visser, M. (1999b). Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 9, 347-351.

Hoshijima, M., Ikeda, Y., Iwanaga, Y., Minamisawa, S., Date, M.O., Gu, Y., Iwatate, M., Li, M., Wang, L., Wilson, J.M., et al. (2002). Chronic suppression of heart-failure progression by a pseudophosphorylated mutant of phospholamban via in vivo cardiac rAAV gene delivery. Nat Med 8, 864-871.

Hunsaker, R.H., Fulkerson, P.K., Barry, F.J., Lewis, R.P., Leier, C.V., and Unverferth, D.V. (1982). Cardiac function in Duchenne's muscular dystrophy. Results of 10-year follow-up study and noninvasive tests. Am J Med 73, 235-238.

Inagaki, K., Fuess, S., Storm, T.A., Gibson, G.A., McTiernan, C.F., Kay, M.A., and Nakai, H. (2006). Robust systemic transduction with AAV9 vectors in mice: efficient global cardiac gene transfer superior to that of AAV8. Mol Ther 14, 45-53.

Jearawiriyapaisarn, N., Moulton, H.M., Buckley, B., Roberts, J., Sazani, P., Fucharoen, S., Iversen, P.L., and Kole, R. (2008). Sustained dystrophin expression induced by peptide-conju-gated morpholino oligomers in the muscles of mdx mice. Mol Ther 16, 1624-1629.

Kamakura, K. (2000). Cardiac involvement of female carrier of Duchenne muscular dystrophy. Intern Med 39, 2-3.

Kamakura, K., Kawai, M., Arahata, K., Koizumi, H., Watanabe, K., and Sugita, H. (1990). A manifesting carrier of Duchenne muscular dystrophy with severe myocardial symptoms. J Neurol 237, 483-485.

Kamogawa, Y., Biro, S., Maeda, M., Setoguchi, M., Hirakawa, T., Yoshida, H., and Tei, C. (2001). Dystrophin-deficient myocardium is vulnerable to pressure overload in vivo. Cardiovasc Res 50, 509-515.

Koenig, M., Beggs, A.H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T., Meng, G., Muller, C.R., Lindlof, M., Kaariainen, H., et al. (1989). The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 45, 498-506.

Kornegay, J.N., Tuler, S.M., Miller, D.M., and Levesque, D.C. (1988). Muscular dystrophy in a litter of golden retriever dogs. Muscle Nerve 11, 1056-1064.

Kunkel, L.M. (2005). 2004 William Allan Award address. Cloning of the DMD gene. Am J Hum Genet 76, 205-214.

Lai, Y., Li, D., Yue, Y., and Duan, D. (2008). Design of trans-splicing adeno-associated viral vectors for Duchenne muscular dystrophy gene therapy. Methods Mol Biol 433, 259-275.

Lai, Y., Thomas, G.D., Yue, Y., Yang, H.T., Li, D., Long, C., Judge, L., Bostick, B., Chamberlain, J.S., Terjung, R.L., et al. (2009). Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy. J Clin Invest 119, 624-635.

Lai, Y., Yue, Y., Liu, M., Ghosh, A., Engelhardt, J.F., Chamberlain, J.S., and Duan, D. (2005). Efficient in vivo gene expression by trans-splicing adeno-associated viral vectors. Nat Biotechnol 23, 1435-1439.

Lane, R.J., Gardner-Medwin, D., and Roses, A.D. (1980). Electrocardiographic abnormalities in carriers of Duchenne muscular dystrophy. Neurology 30, 497-501.

Li, D., Long, C., Yue, Y., and Duan, D. (2009). Sub-physiological sarcoglycan expression contributes to compensatory muscle protection in mdx mice. Hum Mol Genet 18, 1209-1220.

Li, J., Wang, D., Qian, S., Chen, Z., Zhu, T., and Xiao, X. (2003). Efficient and long-term intrac-ardiac gene transfer in delta-sarcoglycan-deficiency hamster by adeno-associated virus-2 vectors. Gene Ther 10, 1807-1813.

Liu, M., Yue, Y., Harper, S.Q., Grange, R.W., Chamberlain, J.S., and Duan, D. (2005). Adeno-associated virus-mediated micro-dystrophin expression protects young Mdx muscle from contraction-induced injury. Mol Ther 11, 245-256.

Markham, L.W., Spicer, R.L., and Cripe, L.H. (2005). The heart in muscular dystrophy. Pediatr Ann 34, 531-535.

Matsuda, M., Akatsuka, N., Yamaguchi, T., Saito, T., and Takahashi, H. (1977). Systolic time intervals in patients with progressive muscular dystrophy of the Duchenne type. Jpn Heart J 18, 638-651.

Megeney, L.A., Kablar, B., Garrett, K., Anderson, J.E., and Rudnicki, M.A. (1996). MyoD is required for myogenic stem cell function in adult skeletal muscle. Genes Dev 10, 1173-1183.

Megeney, L.A., Kablar, B., Perry, R.L., Ying, C., May, L., and Rudnicki, M.A. (1999). Severe cardiomyopathy in mice lacking dystrophin and MyoD. Proc Natl Acad Sci U S A 96, 220-225.

Melacini, P., Fanin, M., Angelini, A., Pegoraro, E., Livi, U., Danieli, G.A., Hoffman, E.P., Thiene, G., Dalla Volta, S., and Angelini, C. (1998). Cardiac transplantation in a Duchenne muscular dystrophy carrier. Neuromuscul Disord 8, 585-590.

Melacini, P., Gambino, A., Caforio, A., Barchitta, A., Valente, M.L., Angelini, A., Fanin, M., Thiene, G., Angelini, C., Casarotto, D., et al. (2001). Heart transplantation in patients with inherited myopathies associated with end-stage cardiomyopathy: molecular and biochemical defects on cardiac and skeletal muscle. Transplant Proc 33, 1596-1599.

Mirabella, M., Servidei, S., Manfredi, G., Ricci, E., Frustaci, A., Bertini, E., Rana, M., and Tonali, P. (1993). Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 43, 2342-2345.

Moise, N.S., Valentine, B.A., Brown, C.A., Erb, H.N., Beck, K.A., Cooper, B.J., and Gilmour, R.F. (1991). Duchenne's cardiomyopathy in a canine model: electrocardiographic and echocardiography studies. J Am Coll Cardiol 17, 812-820.

Monaco, A.P., Bertelson, C.J., Liechti-Gallati, S., Moser, H., and Kunkel, L.M. (1988). An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2, 90-95.

Muntoni, F., Wilson, L., Marrosu, G., Marrosu, M.G., Cianchetti, C., Mestroni, L., Ganau, A., Dubowitz, V., and Sewry, C. (1995). A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J Clin Invest 96, 693-699.

Nakamura, A., Yoshida, K., Takeda, S., Dohi, N., and Ikeda, S. (2002). Progression of dystrophic features and activation of mitogen-activated protein kinases and calcineurin by physical exercise, in hearts of mdx mice. FEBS Lett 520, 18-24.

Nigro, G., Comi, L.I., Politano, L., and Bain, R.J. (1990). The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol 26, 271-277.

Nigro, G., Comi, L.I., Politano, L., Limongelli, F.M., Nigro, V., De Rimini, M.L., Giugliano, M.A., Petretta, V.R., Passamano, L., Restucci, B., et al. (1995). Evaluation of the cardiomyopathy in Becker muscular dystrophy. Muscle Nerve 18, 283-291.

Nolan, M.A., Jones, O.D., Pedersen, R.L., and Johnston, H.M. (2003). Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies. Neuromuscul Disord 13, 129-132.

Ogata, H., Nakagawa, H., Hamabe, K., Hattori, A., Ishikawa, Y., Ishikawa, Y., Saito, M., and Minami, R. (2000). A female carrier of Duchenne muscular dystrophy complicated with car-diomyopathy. Intern Med 39, 34-38.

Pacak, C.A., Mah, C.S., Thattaliyath, B.D., Conlon, T.J., Lewis, M.A., Cloutier, D.E., Zolotukhin, I., Tarantal, A.F., and Byrne, B.J. (2006). Recombinant adeno-associated virus serotype 9 leads to preferential cardiac transduction in vivo. Circ Res 99, e3-e9.

Patane, F., Zingarelli, E., Attisani, M., and Sansone, F. (2006). Successful heart transplantation in Becker's muscular dystrophy. Eur J Cardiothorac Surg 29, 250.

Perloff, J.K., de Leon, A.C., Jr., and O'Doherty, D. (1966). The cardiomyopathy of progressive muscular dystrophy. Circulation 33, 625-648.

Perloff, J.K., Roberts, W.C., de Leon, A.C., Jr., and O'Doherty, D. (1967). The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy. An electrocardiographic-patho-logic correlative study. Am J Med 42, 179-188.

Petrof, B.J. (2002). Molecular pathophysiology of myofiber injury in deficiencies of the dystrophin-glycoprotein complex. Am J Phys Med Rehabil 81, S162-S174.

Phelps, S.F., Hauser, M.A., Cole, N.M., Rafael, J.A., Hinkle, R.T., Faulkner, J.A., and Chamberlain, J.S. (1995). Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. Hum Mol Genet 4, 1251-1258.

Politano, L., Nigro, V., Nigro, G., Petretta, V.R., Passamano, L., Papparella, S., Di Somma, S., and Comi, L.I. (1996). Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 275, 1335-1338.

Quinlan, J.G., Hahn, H.S., Wong, B.L., Lorenz, J.N., Wenisch, A.S., and Levin, L.S. (2004). Evolution of the mdx mouse cardiomyopathy: physiological and morphological findings. Neuromuscul Disord 14, 491-496.

Quinlivan, R.M., and Dubowitz, V. (1992). Cardiac transplantation in Becker muscular dystrophy. Neuromuscul Disord 2, 165-167.

Rando, T.A. (2001). The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies. Muscle Nerve 24, 1575-1594.

Rodino-Klapac, L.R., Janssen, P.M., Montgomery, C.L., Coley, B.D., Chicoine, L.G., Clark, K.R., and Mendell, J.R. (2007). A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy. J Transl Med 5, 45.

Rooney, J.E., Welser, J.V., Dechert, M.A., Flintoff-Dye, N.L., Kaufman, S.J., and Burkin, D.J. (2006). Severe muscular dystrophy in mice that lack dystrophin and alpha7 integrin. J Cell Sci 119, 2185-2195.

Rose, J.A., Maizel, J.V., Jr., Inman, J.K., and Shatkin, A.J. (1971). Structural proteins of adenovi-rus-associated viruses. J Virol 8, 766-770.

Ruiz-Cano, M.J., Delgado, J.F., Jimenez, C., Jimenez, S., Cea-Calvo, L., Sanchez, V., Escribano, P., Gomez, M.A., Gil-Fraguas, L., and Saenz de la Calzada, C. (2003). Successful heart transplantation in patients with inherited myopathies associated with end-stage cardiomyopathy. Transplant Proc 35, 1513-1515.

Sadeghi, A., Doyle, A.D., and Johnson, B.D. (2002). Regulation of the cardiac L-type Ca2+ channel by the actin-binding proteins alpha-actinin and dystrophin. Am J Physiol Cell Physiol 282, C1502-C1511.

Sakamoto, M., Yuasa, K., Yoshimura, M., Yokota, T., Ikemoto, T., Suzuki, M., Dickson, G., Miyagoe-Suzuki, Y., and Takeda, S. (2002). Micro-dystrophin cDNA ameliorates dystrophic phenotypes when introduced into mdx mice as a transgene. Biochem Biophys Res Commun 293, 1265-1272.

Shelton, G.D., and Engvall, E. (2005). Canine and feline models of human inherited muscle diseases. Neuromuscul Disord 15, 127-138.

Su, H., Lu, R., and Kan, Y.W. (2000). Adeno-associated viral vector-mediated vascular endothelial growth factor gene transfer induces neovascular formation in ischemic heart. Proc Natl Acad Sci U S A 97, 13801-13806.

Sun, L., Li, J., and Xiao, X. (2000). Overcoming adeno-associated virus vector size limitation through viral DNA heterodimerization. Nat Med 6, 599-602.

Svensson, E.C., Marshall, D.J., Woodard, K., Lin, H., Jiang, F., Chu, L., and Leiden, J.M. (1999). Efficient and stable transduction of cardiomyocytes after intramyocardial injection or intrac-oronary perfusion with recombinant adeno-associated virus vectors. Circulation 99, 201-205.

Takenaka, A., Yokota, M., Iwase, M., Miyaguchi, K., Hayashi, H., and Saito, H. (1993). Discrepancy between systolic and diastolic dysfunction of the left ventricle in patients with Duchenne muscular dystrophy. Eur Heart J 14, 669-676.

Towbin, J.A., Hejtmancik, J.F., Brink, P., Gelb, B., Zhu, X.M., Chamberlain, J.S., McCabe, E.R., and Swift, M. (1993). X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 87, 1854-1865.

Townsend, D., Blankinship, M.J., Allen, J.M., Gregorevic, P., Chamberlain, J.S., and Metzger, J.M. (2007). Systemic administration of micro-dystrophin restores cardiac geometry and prevents dobutamine-induced cardiac pump failure. Mol Ther 15, 1086-1092.

Townsend, D., Yasuda, S., Li, S., Chamberlain, J.S., and Metzger, J.M. (2008). Emergent dilated cardiomyopathy caused by targeted repair of dystrophic skeletal muscle. Mol Ther 16, 832-835.

Utsunomiya, T., Mori, H., Shibuya, N., Oku, Y., Matsuo, S., and Hashiba, K. (1990). Long-term observation of cardiac function in Duchenne's muscular dystrophy. Evaluation using systolic time intervals and echocardiography. Jpn Heart J 31, 585-597.

Valentine, B.A., Cummings, J.F., and Cooper, B.J. (1989). Development of Duchenne-type cardiomyopathy. Morphologic studies in a canine model. Am J Pathol 135, 671-678.

van Deutekom, J.C., Janson, A.A., Ginjaar, I.B., Frankhuizen, W.S., Aartsma-Rus, A., Bremmer-Bout, M., den Dunnen, J.T., Koop, K., van der Kooi, A.J., Goemans, N.M., et al. (2007). Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 357, 2677-2686.

Walcher, T., Kunze, M., Steinbach, P., Sperfeld, A.D., Burgstahler, C., Hombach, V., and Torzewski, J. (2008). Cardiac involvement in a female carrier of Duchenne muscular dystrophy. Int J Cardiol. Online publication ahead of print. doi, 10.1016/j.ijcard.2008.06.084

Wang, B., Li, J., Fu, F.H., and Xiao, X. (2008a). Systemic human minidystrophin gene transfer improves functions and life span of dystrophin and dystrophin/utrophin-deficient mice. J Orthop Res 27, 421-426

Wang, B., Li, J., Qiao, C., Chen, C., Hu, P., Zhu, X., Zhou, L., Bogan, J., Kornegay, J., and Xiao, X. (2008b). A canine minidystrophin is functional and therapeutic in mdx mice. Gene Ther 15, 1099-1106.

Wang, B., Li, J., and Xiao, X. (2000). Adeno-associated virus vector carrying human minidystro-phin genes effectively ameliorates muscular dystrophy in mdx mouse model. Proc Natl Acad Sci U S A 97, 13714-13719.

Wang, Z., Allen, J.M., Riddell, S.R., Gregorevic, P., Storb, R., Tapscott, S.J., Chamberlain, J.S., and Kuhr, C.S. (2007a). Immunity to adeno-associated virus-mediated gene transfer in a random-bred canine model of Duchenne muscular dystrophy. Hum Gene Ther 18, 18-26.

Wang, Z., Kuhr, C.S., Allen, J.M., Blankinship, M., Gregorevic, P., Chamberlain, J.S., Tapscott, S.J., and Storb, R. (2007b). Sustained AAV-mediated dystrophin expression in a canine model of duchenne muscular dystrophy with a brief course of immunosuppression. Mol Ther 15, 1160-1166.

Warrington, K.H., Jr., Gorbatyuk, O.S., Harrison, J.K., Opie, S.R., Zolotukhin, S., and Muzyczka, N. (2004). Adeno-associated virus type 2 VP2 capsid protein is nonessential and can tolerate large peptide insertions at its N terminus. J Virol 78, 6595-6609.

Watchko, J., O'Day, T., Wang, B., Zhou, L., Tang, Y., Li, J., and Xiao, X. (2002). Adeno-associated virus vector-mediated minidystrophin gene therapy improves dystrophic muscle contractile function in mdx mice. Hum Gene Ther 13, 1451-1460.

Wells, D.J., Wells, K.E., Asante, E.A., Turner, G., Sunada, Y., Campbell, K.P., Walsh, F.S., and Dickson, G. (1995). Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy. Hum Mol Genet 4, 1245-1250.

Wieczorek, L.A., Garosi, L.S., and Shelton, G.D. (2006). Dystrophin-deficient muscular dystrophy in an old English sheepdog. Vet Rec 158, 270-273.

Wu, B., Li, Y., Morcos, P.A., Doran, T.J., Lu, P., and Lu, Q.L. (2009). Octa-guanidine morpholino restores dystrophin expression in cardiac and skeletal muscles and ameliorates pathology in dystrophic mdx mice. Mol Ther 17, 864-871.

Wu, B., Moulton, H.M., Iversen, P.L., Jiang, J., Li, J., Spurney, C.F., Sali, A., Guerron, A.D., Nagaraju, K., Doran, T., et al. (2008). Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer. Proc Natl Acad Sci U S A 105, 14814-14819.

Xie, Q., Bu, W., Bhatia, S., Hare, J., Somasundaram, T., Azzi, A., and Chapman, M.S. (2002). The atomic structure of adeno-associated virus (AAV-2), a vector for human gene therapy. Proc Natl Acad Sci U S A 99, 10405-10410.

Yan, Z., Duan, D., and Engelhardt, J.F. (2006). Mechanism of recombinant adeno-associated virus transduction. In Parvoviruses, M.E. Bloom, S.F. Cotmore, R.M. Linden, C.R. Parrish, and J.R. Kerr, eds. (London, England, Hodder Arnold; Distributed in the U.S.A. by Oxford University Press), pp. 511-524.

Yan, Z., Zhang, Y., Duan, D., and Engelhardt, J.F. (2000). From the Cover: Trans-splicing vectors expand the utility of adeno-associated virus for gene therapy. Proc Natl Acad Sci U S A 97, 6716-6721.

Yang, L., Jiang, J., Drouin, L.M., Agbandje-McKenna, M., Chen, C., Qiao, C., Pu, D., Hu, X., Wang, D.Z., Li, J., et al. (2009). A myocardium tropic adeno-associated virus (AAV) evolved by DNA shuffling and in vivo selection. Proc Natl Acad Sci U S A 106, 3946-3951.

Yasuda, S., Townsend, D., Michele, D.E., Favre, E.G., Day, S.M., and Metzger, J.M. (2005). Dystrophic heart failure blocked by membrane sealant poloxamer. Nature 436, 1025-1029.

Yin, H., Lu, Q., and Wood, M. (2008a). Effective exon skipping and restoration of dystrophin expression by peptide nucleic acid antisense oligonucleotides in mdx mice. Mol Ther 16, 38-45.

Yin, H., Moulton, H.M., Seow, Y., Boyd, C., Boutilier, J., Iverson, P., and Wood, M.J. (2008b). Cell-penetrating peptide-conjugated antisense oligonucleotides restore systemic muscle and cardiac dystrophin expression and function. Hum Mol Genet 17, 3909-3918.

Yokota, T., Lu, Q.L., Partridge, T., Kobayashi, M., Nakamura, A., Takeda, S., and Hoffman, E. (2009). Efficacy of systemic morpholino exon-skipping in duchenne dystrophy dogs. Ann Neurol 65, 667-676.

Yoshimura, M., Sakamoto, M., Ikemoto, M., Mochizuki, Y., Yuasa, K., Miyagoe-Suzuki, Y., and Takeda, S. (2004). AAV vector-mediated microdystrophin expression in a relatively small percentage of mdx myofibers improved the mdx phenotype. Mol Ther 10, 821-828.

Yuasa, K., Miyagoe, Y., Yamamoto, K., Nabeshima, Y., Dickson, G., and Takeda, S. (1998). Effective restoration of dystrophin-associated proteins in vivo by adenovirus-mediated transfer of truncated dystrophin cDNAs. FEBS Lett 425, 329-336.

Yuasa, K., Yoshimura, M., Urasawa, N., Ohshima, S., Howell, J.M., Nakamura, A., Hijikata, T., Miyagoe-Suzuki, Y., and Takeda, S. (2007). Injection of a recombinant AAV serotype 2 into canine skeletal muscles evokes strong immune responses against transgene products. Gene Ther 14, 1249-1260.

Yue, Y., Ghosh, A., Long, C., Bostick, B., Smith, B.F., Kornegay, J.N., and Duan, D. (2008). A single intravenous injection of adeno-associated virus serotype-9 leads to whole body skeletal muscle transduction in dogs. Mol Ther 16, 1944-1952.

Yue, Y., Li, Z., Harper, S.Q., Davisson, R.L., Chamberlain, J.S., and Duan, D. (2003). Microdystrophin gene therapy of cardiomyopathy restores dystrophin-glycoprotein complex and improves sarcolemma integrity in the mdx mouse heart. Circulation 108, 1626-1632.

Yue, Y., Liu, M., and Duan, D. (2006). C-terminal truncated microdystrophin recruits dystrobrevin and syntrophin to the dystrophin-associated glycoprotein complex and reduces muscular dystrophy in symptomatic utrophin/dystrophin double knock-out mice. Mol Ther 14, 79-87.

Yue, Y., Skimming, J.W., Liu, M., Strawn, T., and Duan, D. (2004). Full-length dystrophin expression in half of the heart cells ameliorates beta-isoproterenol-induced cardiomyopathy in mdx mice. Hum Mol Genet 13, 1669-1675.

Yugeta, N., Urasawa, N., Fujii, Y., Yoshimura, M., Yuasa, K., Wada, M.R., Nakura, M., Shimatsu, Y., Tomohiro, M., Takahashi, A., et al. (2006). Cardiac involvement in Beagle-based canine X-linked muscular dystrophy in Japan (CXMDJ): electrocardiographic, echocardiographic, and morphologic studies. BMC Cardiovasc Disord 6, 47.

Zhu, X., Wheeler, M.T., Hadhazy, M., Lam, M.Y., and McNally, E.M. (2002). Cardiomyopathy is independent of skeletal muscle disease in muscular dystrophy. Faseb J 16, 1096-1098.

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