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Muscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGE(myd) mice

Mutations in several glycosyltransferases underlie a group of muscular dystrophies known as glycosylation-deficient muscular dystrophy. A common feature of these diseases is loss of glycosylation and consequent dystroglycan function that is correlated with severe pathology in muscle, brain and other...

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Detalhes bibliográficos
Main Authors: Gumerson, Jessica D., Davis, Carol S., Kabaeva, Zhyldyz T., Hayes, John M., Brooks, Susan V., Michele, Daniel E.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3554202/
https://ncbi.nlm.nih.gov/pubmed/23222475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds483
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