Kollberg, Gittan

Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. [electronic resource] - The New England journal of medicine Oct 2007 - 1507-14 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1533-4406

10.1056/NEJMoa066691 doi


Biopsy
Cardiomyopathy, Hypertrophic--genetics
Child
Child, Preschool
Codon, Nonsense
DNA Mutational Analysis
Exercise Tolerance--genetics
Female
Glucose Tolerance Test
Glycogen--analysis
Glycogen Storage Disease--genetics
Glycogen Synthase--deficiency
Homozygote
Humans
Liver Glycogen--analysis
Male
Mitochondria--metabolism
Muscle, Skeletal--enzymology
Myocardium--enzymology