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