Whole exome sequencing revealed a mutation in COL6A1 associated with ullrich congenital muscular dystrophy

Abstract

This study expands the breadth of congenital muscular dystrophies research landcape and underscores the efficiency of WES in investigating the etiology of this group of heterogeneous diseases. Insight about the underlying genetic causes could contribute to develop a well-timed treatment regimen and help patients make an informed decision about reproductive health.