Article
A double mutation in a patient with X-linked myotubular myopathy.
Pediatric neurology - 1 Apr 2001
Tachi N, Kozuka N, Chiba S, Miyaji M, Watanabe I
Abstract excerpt
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...
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