- A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. Lucarini, L., Giusti, B., Zhang, R.Z., Pan, T.C., Jimenez-Mallebrera, C., Mercuri, E., Muntoni, F., Pepe, G., Chu, M.L. Hum. Genet. (2005)