Contribution of Dysferlin Deficiency to Skeletal Muscle Pathology in Asymptomatic and Severe Dystroglycanopathy Models: Generation of a New Model for Fukuyama Congenital Muscular Dystrophy

Defects in dystroglycan glycosylation are associated with a group of muscular dystrophies, termed dystroglycanopathies, that include Fukuyama congenital muscular dystrophy (FCMD). It is widely believed that abnormal glycosylation of dystroglycan leads to disease-causing membrane fragility. We previo...

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Autori principali: Kanagawa, Motoi, Lu, Zhongpeng, Ito, Chiyomi, Matsuda, Chie, Miyake, Katsuya, Toda, Tatsushi
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2014
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4157776/
https://ncbi.nlm.nih.gov/pubmed/25198651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0106721
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