P1.12 Frequency of genomic deletion mutations in collagen VI myopathies

Abstract

The collagen VI (Col6) myopathies Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are increasingly identified forms of muscle disease. The spectrum of clinical features includes a combination of weakness, joint contractures, and joint hyperlaxity. Despite increasing awareness of BM and UCMD as clinical entities, little is known about the molecular pathogenesis, natural history, and treatment for these disorders. Genotype/phenotype associations have been difficult due to the clinical and genetic heterogeneity.