McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene.
We have previously discovered a common nonsense mutation in exon 1 of the myophosphosphorylase gene in patients with McArdle's disease, but this failed to explain all cases. We now report a second mutation (G-->TT) in one patient, also in exon 1. This mutation causes a shift in the reading frame which results in the replacement of Val15 by Phe. A further 10 amino acids of mis-sense protein are synthesised before a stop codon is reached.
Bartram
C
C
Department of Biochemistry and Molecular Biology, UMIST, Manchester, UK.
Edwards
R H
RH
Clague
J
J
Beynon
R J
RJ
D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons; D016368:Frameshift Mutation; D006012:Glycogen Storage Disease Type V / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009132:Muscles / Q000201:enzymology*; D006005:Phosphorylases / Q000235:genetics*
D006005:Phosphorylases