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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Muscle fructose 1,6-diphosphatase deficiency associated with an atypical central core disease.

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.[1]

References

  1. Muscle fructose 1,6-diphosphatase deficiency associated with an atypical central core disease. Kar, N.C., Pearson, C.M., Verity, M.A. J. Neurol. Sci. (1980) [Pubmed]
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