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Muscle Fiber Characterization of the DyW Animal Model of Laminin Alpha 2 Congenital Muscular Dystrophy
AuthorBates, Christina Rae-Douglas
AdvisorBaker, Josh E.
Cell and Molecular Biology
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Laminin-α2 congenital muscular dystrophy (LAMA2-CMD) is a rare disease affecting children as early as birth. It is a result of mutations in the LAMA2 gene responsible for coding the laminin alpha 2 chain. The alpha chain is one-third of an essential protein and significant component of the basement membrane, Laminin. There are currently no treatments or cures for this devastating disease. The literature lacks the physical characterization of LAMA2-CMD muscle fibers. This thesis describes abnormal morphology of LAMA2 tissues, most notably branching of individual myofibers. The investigation into aspects of dysfunctionality in this disease will highlight future therapeutic targets and provide a more explicit information base to build future research from to one day provide treatments and even a cure to this disease.