A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease.
We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous C-to-A mutation results in the replacement of a highly conserved alanine at amino acid position 659 with an aspartic acid in the C-terminal domain of the myophosphorylase gene protein, near binding sites for pyridoxal phosphate and glucose. Our data further expand the genetic heterogeneity in patients with McArdle's disease.
Martín
M A
MA
Centro de Investigación, Hospital Universitario 12 de Octubre, Avda Córdoba km 5.4, 28041, Madrid, Spain.
Rubio
J C
JC
Campos
Y
Y
Ricoy
J R
JR
Cabello
A
A
Arenas
J
J
D000328:Adult; D001665:Binding Sites / Q000235:genetics; D001706:Biopsy; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis* / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D006005:Phosphorylases / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D013030:Spain
D006005:Phosphorylases