P1.13 Pathological spectrum of collagen VI related myopathies: Does the pathology tell us something about the disease?

Abstract

Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem myopathy are caused by mutations in collagen VI genes. Most mutations result in partial reduction of collagen VI but in some cases collagen VI is not visibly reduced. UCMD is one of the most common forms of congenital muscular dystrophy and the clinical and pathological spectrums are wider than anticipated. Here we summarise the histopathological findings in a series of cases with mutations in COL6A genes spanning the clinical spectrum.