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

[摘要] 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 a

[学科分类] 呼吸医学