Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management
Collagen VI-related dystrophy (collagen VI-RD) is a rare neuromuscular condition caused by mutations in the COL6A1, COL6A2 or COL6A3 genes. The phenotypic spectrum includes early-onset Ullrich congenital muscular dystrophy, adult-onset Bethlem myopathy and an intermediate phenotype. The disorder is...
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| Hoofdauteurs: | , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
European Respiratory Society
2017-06-01
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| Reeks: | ERJ Open Research |
| Online toegang: | http://openres.ersjournals.com/content/3/2/00049-2017.full |
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