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  • Title: Muscle fructose 1,6-diphosphatase deficiency associated with an atypical central core disease.
    Author: Kar NC, Pearson CM, Verity MA.
    Journal: J Neurol Sci; 1980 Nov; 48(2):243-56. PubMed ID: 6253603.
    Abstract:
    A 25-year-old woman with a non-familial congenital nonprogressive myopathy was found to have atypical core-like lesions in type 1 muscle fibers. Typical core lesions (approximately 13 micrometers in diameter) and smaller, PAS positive (4.1 micrometers in diameter) atypical core were associated with a predominant type 1 fibre myopathy. A specific deficiency of fructose 1, 6-diphosphatase was found with normal values for nine other muscle glycolytic and mitochondrial marker enzymes. The data provide evidence for a specific muscle enzyme deficiency in a patient with atypical central core disease.
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