ColVI myopathies: where do we stand, where do we go?

Collagen VI myopathies, caused by mutations in the genes encoding collagen type VI (ColVI), represent a clinical continuum with Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) at each end of the spectrum, and less well-defined intermediate phenotypes in between. ColVI myopathi...

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Detaylı Bibliyografya
Asıl Yazarlar: Allamand, Valérie, Briñas, Laura, Richard, Pascale, Stojkovic, Tanya, Quijano-Roy, Susana, Bonne, Gisèle
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2011
Konular:
Review
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3189202/
https://ncbi.nlm.nih.gov/pubmed/21943391
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2044-5040-1-30
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