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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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| Auteurs principaux: | , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BioMed Central
2011
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| Sujets: | |
| Accès en ligne: | 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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