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

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.

• Authors: N C Kar, C M Pearson, M A Verity
• Journal: Journal of the neurological sciences (J Neurol Sci) Vol. 48 Issue 2 Pg. 243-56 (Nov 1980) ISSN: 0022-510X [Print] Netherlands
• PMID: 6253603 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Glycogen
• NADH Tetrazolium Reductase
• Fructose-Bisphosphatase
• Adenosine Triphosphatases

Topics

• Adenosine Triphosphatases (metabolism)
• Adult
• Female
• Fructose-1,6-Diphosphatase Deficiency
• Fructose-Bisphosphatase (metabolism)
• Glycogen (metabolism)
• Histocytochemistry
• Humans
• Muscles (enzymology)
• Muscular Diseases (enzymology, pathology)
• Myofibrils (ultrastructure)
• NADH Tetrazolium Reductase (metabolism)