A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease.
We identified a novel nonsense mutation in the myophoshorylase gene in a patient of Italian origin with McArdle disease. This homozygous C-to-T transition (805C > T) results in the replacement of a arginine at amino acid position 269 with a stop codon (R269X). Our data further expand the genetic heterogeneity in patients with McArdle disease.
Deschauer
M
M
Department of Neurology, Martin-Luther-Universität Halle-Wittenberg, Ernst-Grube Strasse 40, Halle/Saale, 06097, Germany.
Opalka
J R
JR
Lindner
A
A
Zierz
S
S
D000328:Adult; D018389:Codon, Nonsense; D005260:Female; D018740:Genetic Heterogeneity; D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000201:enzymology / Q000235:genetics*; D006801:Humans
D018389:Codon, Nonsense; D024982:Glycogen Phosphorylase, Muscle Form