An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease).
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, New York 10032.
S
S
Tsujino
L A
LA
Rubin
S
S
Shanske
S
S
DiMauro
D000328:Adult; D001483:Base Sequence; D018387:Codon, Initiator / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006012:Glycogen Storage Disease Type V / Q000201:enzymology* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D006005:Phosphorylases / Q000172:deficiency / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012595:Scleroderma, Systemic / Q000235:genetics
D018387:Codon, Initiator; D017931:DNA Primers; D006005:Phosphorylases