Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2.

Our investigation contributes to the expanding body of evidence that links mutations in COL12A1 with UCMD2. Our findings confirm that the homozygous mutation in COL12A1 caused this condition and suggest that genetic testing for this mutation may be useful for diagnosing patients with this disease.