Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase.

Authors :: Gospe SM Jr
El-Schahawi M
Shanske S
Bruno C
DiMauro S
Hoye E
Walsh DA
Gorin FA
Source :: Neurology [Neurology] 1998 Oct; Vol. 51 (4), pp. 1228-9.
Publication Year :: 1998

Subjects :: Adolescent
Female
Humans
Muscle, Skeletal enzymology
Mutation
Polymorphism, Restriction Fragment Length
Creatine Kinase blood
Glycogen Storage Disease Type V genetics
Glycogen Storage Disease Type V metabolism
Phosphorylases blood
Phosphorylases genetics

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