Katie M. Minor

Sep 14, 2023 | onlinelibrary.wiley.com | Vishal Murthy |Annie Chen |Katie M. Minor |Leanne Jankelunas

bp base pair CMDs congenital muscular dystrophies SNP single nucleotide polymorphism 1 INTRODUCTION Ullrich congenital muscular dystrophy (CMD) is a human disease characterized by muscle weakness, proximal joint contractures, and hyperlaxity of the distal joints.1 In humans, this disease shows a mostly autosomal recessive and rarely autosomal dominant inheritance pattern and is associated with variants in the COL6A1, COL6A2, or COL6A3 genes with severity of clinical signs being associated...