Nov 1, 1980

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

Journal of the Neurological Sciences
N C KarM A Verity

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.

  • References32
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References

  • References32
  • Citations3

Citations

Mentioned in this Paper

Deficiency, Hexosediphosphatase
Fructose
Enzymes, antithrombotic
Fructose-1,6-Bisphosphatase
Myopathy
Mitochondria
Enzymes for Treatment of Wounds and Ulcers
Muscle Fibers
Muscle
Fructose-1,6-Diphosphatase Deficiency

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