Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (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, New York 10032, USA.
Shanske
S
S
Martinuzzi
A
A
Heiman-Patterson
T
T
DiMauro
S
S
D000328:Adult; D001483:Base Sequence; D006012:Glycogen Storage Disease Type V / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D006005:Phosphorylases / Q000172:deficiency*; D044465:White People
D006005:Phosphorylases