Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

Samantha J. Bryen, Emily C. Oates, Frances J. Evesson, Jessica K. Lu, Leigh B. Waddell, Himanshu Joshi, Monique M. Ryan, Beryl B. Cummings, Catriona McLean, Daniel G. MacArthur, Andrew J. Kornberg, Sandra T. Cooper