The collagen VI-related myopathies – muscle meets its matrix (2011) Carsten G. Bönnemann

Description

This article reviews the collagen VI-related myopathies, a spectrum of diseases ranging from severe Ullrich congenital muscular dystrophy to mild Bethlem myopathy. These disorders are caused by dominant and recessive mutations in COL6A1, COL6A2, and COL6A3, resulting in deficient or dysfunctional microfibrillar collagen VI in the extracellular matrix of muscle and connective tissues. Clinical manifestations include substantial muscle weakness, joint laxity, progressive contractures, and frequent nocturnal respiratory failure. The text discusses pathological effects, including dystrophic changes, fibrosis, and increased apoptosis, and emphasizes current treatment mainstays like optimized respiratory and orthopedic management.