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Mitochondrial Dysfunction and Defective Autophagy in the Pathogenesis of Collagen VI Muscular Dystrophies

Ullrich Congenital Muscular Dystrophy (UCMD), Bethlem Myopathy (BM), and Congenital Myosclerosis are diseases caused by mutations in the genes encoding the extracellular matrix protein collagen VI. A dystrophic mouse model, where collagen VI synthesis was prevented by targeted inactivation of the Co...

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Autors principals: Bernardi, Paolo, Bonaldo, Paolo
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2013
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3632061/
https://ncbi.nlm.nih.gov/pubmed/23580791
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a011387
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