Two novel missense mutations (E654K, L396P) in Caucasian patients 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, USA.
S
S
Tsujino
S
S
Shanske
A
A
Martinuzzi
T
T
Heiman-Patterson
S
S
DiMauro
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