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  • Title: Diagnosis of muscular glycogenosis by in vivo natural abundance 13C NMR spectroscopy.
    Author: Jehenson P, Duboc D, Bloch G, Fardeau M, Syrota A.
    Journal: Neuromuscul Disord; 1991; 1(2):99-101. PubMed ID: 1822788.
    Abstract:
    Natural abundance 13C NMR (nuclear magnetic resonance) spectroscopy was used to distinguish patients suffering from muscle glycogenosis type V (McArdle's disease) from normal subjects by measuring their muscle glycogen content at rest. Proton-decoupled 13C spectra were obtained in 10-15 min from calf muscles at rest. The ratio of the glycogen/creatine signal areas was 12.9 +/- 1.7 in four McArdle's disease patients and 2.0 +/- 0.7 in seven normal subjects. This technique thus allows the non-invasive diagnosis of muscle glycogenosis.
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