Natural history of pulmonary function in collagen VI-related myopathies

The spectrum of clinical phenotypes associated with a deficiency or dysfunction of collagen VI in the extracellular matrix of muscle are collectively termed ‘collagen VI-related myopathies’ and include Ullrich congenital muscular dystrophy, Bethlem myopathy and intermediate phenotypes. To further de...

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Bibliografiske detaljer
Main Authors: Foley, A. Reghan, Quijano-Roy, Susana, Collins, James, Straub, Volker, McCallum, Michelle, Deconinck, Nicolas, Mercuri, Eugenio, Pane, Marika, D’Amico, Adele, Bertini, Enrico, North, Kathryn, Ryan, Monique M., Richard, Pascale, Allamand, Valérie, Hicks, Debbie, Lamandé, Shireen, Hu, Ying, Gualandi, Francesca, Auh, Sungyoung, Muntoni, Francesco, Bönnemann, Carsten G.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2013
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3859224/
https://ncbi.nlm.nih.gov/pubmed/24271325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awt284
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