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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Detalles Bibliográficos
Autores principales: Fraser, Kristin L., Wong, Scott, Foley, A. Reghan, Chhibber, Sameer, Bönnemann, Carsten G., Lesser, Daniel J., Grosmann, Carla, Rutkowski, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482316/
https://www.ncbi.nlm.nih.gov/pubmed/28660205
http://dx.doi.org/10.1183/23120541.00049-2017

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