PMC3543911_01
Deletion at nucleotide 473 in exon 6 of MTM1 in case 2 and his mother. MTM1: mutations in the myotubularin 1 gene.
jcn-9-57-g002.jpg
PMC3543911_01_jcn-9-57-g002.jpg
F2
Lys158SerfxX28) (Fig. 2), which is presumed to result in the premature truncated myotubularin protein.