Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.
Tsujino
S
S
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032.
Shanske
S
S
Goto
Y
Y
Nonaka
I
I
DiMauro
S
S
D000328:Adult; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D017931:DNA Primers; D006012:Glycogen Storage Disease Type V / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007438:Introns; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D006005:Phosphorylases / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D003062:Codon; D017931:DNA Primers; D006005:Phosphorylases