Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy.

Abstract

Congenital muscular dystrophies (CMDs) are a group of rare genetic diseases that primarily affect the muscle and are characterized by progressive degeneration and weakness(1, 2). Ullrich congenital muscular dystrophy (UCMD) is a rare type of autosomal dominant or recessive CMDs, mainly caused by mutations in the related genes leading to loss of collagen VI with an earlier onset time and progressive clinical symptoms(1, 3). We describe a case which presented UCMD caused by novel COL6A2 mutations.