Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. [electronic resource]
Producer: 20071016Description: 1507-14 p. digitalISSN:- 1533-4406
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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