Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy.
Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea that the pathophysiology of dysferlin deficiencies is due to a deficit in membrane repair. Here, we sh...
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Auteurs principaux: | , , , , , , , , , , , , , |
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Format: | article |
Langue: | EN |
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Public Library of Science (PLoS)
2012
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Accès en ligne: | https://doaj.org/article/ab23a3d6ce924c7caaba2d978af7e9af |
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