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Homologous Recombination Mediates Functional Recovery Of Dysferlin Deficiency Following Aav5 Gene Transfer, William E. Grose, K. Reed Clark, Danielle Griffin, Vinod Malik, Kimberly M. Shontz, Chrystal L. Montgomery, Sarah Lewis, Robert H. Brown Jr., Paul M. L. Janssen, Jerry R. Mendell, Louise R. Rodino-Klapac
Homologous Recombination Mediates Functional Recovery Of Dysferlin Deficiency Following Aav5 Gene Transfer, William E. Grose, K. Reed Clark, Danielle Griffin, Vinod Malik, Kimberly M. Shontz, Chrystal L. Montgomery, Sarah Lewis, Robert H. Brown Jr., Paul M. L. Janssen, Jerry R. Mendell, Louise R. Rodino-Klapac
Dr Robert Brown
The dysferlinopathies comprise a group of untreatable muscle disorders including limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment syndrome, and rigid spine syndrome. As with other forms of muscular dystrophy, adeno-associated virus (AAV) gene transfer is a particularly auspicious treatment strategy, however the size of the DYSF cDNA (6.5 kb) negates packaging into traditional AAV serotypes known to express well in muscle (i.e. rAAV1, 2, 6, 8, 9). Potential advantages of a full cDNA versus a mini-gene include: maintaining structural-functional protein domains, evading protein misfolding, and avoiding novel epitopes that could be immunogenic. AAV5 has demonstrated unique …