Genetic and functional differences between Bethlem miopathyand Ullrich congenital muscular dystrophy – case studies

Abstract

Introduction: Bethlem myopathy (BM) and Ullrich Congenital Muscular Dystrophy (DMCU) result from a mutation in collagen type VI. Objective: Describe the functionality of BM and UMCD subjects, at the Center for Human Genome Studies. Methods: It was researched functional skills in both cases, with muscle strength and shortening evaluation. Results: Muscular strength and functional losses in two cases, with a worse score in DMCU. Genetic and functional differences between Bethlem miopathyand Ullrich congenital muscular dystrophycase studies Genetic and functional differences between Bethlem miopathyand Ullrich congenital muscular dystrophy-case studies