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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Tagliavini, Francesca, Sardone, Francesca, Squarzoni, Stefano, Maraldi, Nadir Mario, Merlini, Luciano, Faldini, Cesare, Sabatelli, Patrizia
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: CIC Edizioni Internazionali 2014
Pynciau:
Original Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3940501/
https://ncbi.nlm.nih.gov/pubmed/24596691
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