Muscle Proteomics Reveals Novel Insights into the Pathophysiological Mechanisms of Collagen VI Myopathies

Autor: Sara De Palma 1, 2, Daniele Capitanio1 3, Michele Vasso 2, Paola Braghetta 4, Chiara Scotton 5, Paolo Bonaldo 4, Hanns Lochmüller 6, Francesco Muntoni 7, Alessandra Ferlini 5, Cecilia Gelfi 1, 3

Publikováno v: Journal of proteome research
3 (2014): 11–5022. doi:10.1021/pr500675e
info:cnr-pdr/source/autori:Sara De Palma 1,2, Daniele Capitanio1 3, Michele Vasso 2, Paola Braghetta 4, Chiara Scotton 5, Paolo Bonaldo 4, Hanns Lochmüller 6, Francesco Muntoni 7, Alessandra Ferlini 5 and Cecilia Gelfi 1,2,3/titolo:Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies./doi:10.1021%2Fpr500675e/rivista:Journal of proteome research (Print)/anno:2014/pagina_da:11/pagina_a:5022/intervallo_pagine:11–5022/volume:3

Mutations in the collagen VI genes cause the Ullrich congenital muscular dystrophy (UCMD), with severe phenotype, and Bethlem myopathy (BM) with mild to moderate phenotype. Both, UCMD and BM patients show dystrophic features with degeneration/regener

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::269aeadc7891500b8ad69657e5cb93d0
http://hdl.handle.net/11392/2119613