EP.127Ullrich congenital muscular dystrophy in a boy with 21q22.3 deletion: a revisited diagnosis

Ullrich congenital muscular dystrophy (UCMD) is among the collagen VI-related muscular dystrophies. Recently, large genomic deletions on one allele involving COL6A2 or both COL6A1 and COL6A2 unmasking a pathogenic mutation on the second nondeleted allele have also been described in the etiology. Case presentation: A 127/12 -year-old boy presented to our clinic at the age of 105/12 years with the main complaints of easy fatigability, muscle...