A double mutation in a patient with X-linked myotubular myopathy.

Abstract In this report a double mutation was identified in a patient with X-linked myotubular myopathy. The mutations present in the patient were a C→T substitution of nucleotide 163, which led to an Arg 55 stop codon (nonsense mutation), and an "A" insertion at nucleotide 440, which caused a shift of the reading frame and a premature stop at codon 153 (frameshift mutation). The nonsense mutation was heterozygously present in the mother but not identified in the father or in normal controls. The frameshift mutation was not identified in either parent or normal controls (de novo mutation). These mutations are predicted to truncate the myotubularin protein.