Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management

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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Bibliographic Details
Main Authors: Kristin L. Fraser, Scott Wong, A. Reghan Foley, Sameer Chhibber, Carsten G. Bönnemann, Daniel J. Lesser, Carla Grosmann, Anne Rutkowski
Format: Article
Language:English
Published: European Respiratory Society 2017-06-01
Series:ERJ Open Research
Online Access:http://openres.ersjournals.com/content/3/2/00049-2017.full

Internet

http://openres.ersjournals.com/content/3/2/00049-2017.full

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