Collagen VI Glycine Mutations: Perturbed Assembly and a Spectrum of Clinical Severity

OBJECTIVE: The collagen VI muscular dystrophies, Bethlem myopathy and Ullrich congenital muscular dystrophy, form a continuum of clinical phenotypes. Glycine mutations in the triple helix have been identified in both Bethlem and Ullrich congenital muscular dystrophy, but it is not known why they cau...

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Main Authors: Pace, Rishika A., Peat, Rachel A., Baker, Naomi L., Zamurs, Laura, Mörgelin, Matthias, Irving, Melita, Adams, Naomi E., Bateman, John F., Mowat, David, Smith, Nicholas J. C., Lamont, Phillipa J., Moore, Steven A., Mathews, Katherine D., North, Kathryn N., Lamandé, Shireen R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2743946/
https://ncbi.nlm.nih.gov/pubmed/18825676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.21439
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