Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies

Collagen VI is an extracellular matrix protein expressed in several tissues including skeletal muscle. Mutations in COL6A genes cause Bethlem Myopathy (BM), Ullrich Congenital Muscular Dystrophy (UCMD) and Myosclerosis Myopathy (MM). Collagen VI deficiency causes increased opening of the mitochondri...

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Hlavní autoři: Tagliavini, Francesca, Sardone, Francesca, Squarzoni, Stefano, Maraldi, Nadir Mario, Merlini, Luciano, Faldini, Cesare, Sabatelli, Patrizia
Médium: Artigo
Jazyk:Inglês
Vydáno: CIC Edizioni Internazionali 2014
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3940501/
https://ncbi.nlm.nih.gov/pubmed/24596691
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