title: 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.
mesh_terms: D000251:Adenosine Triphosphatases / Q000378:metabolism; D000328:Adult; D005260:Female; D015319:Fructose-1,6-Diphosphatase Deficiency; D006597:Fructose-Bisphosphatase / Q000378:metabolism; D006003:Glycogen / Q000378:metabolism; D006651:Histocytochemistry; D006801:Humans; D009132:Muscles / Q000201:enzymology*; D009135:Muscular Diseases / Q000201:enzymology* / Q000473:pathology; D009210:Myofibrils / Q000648:ultrastructure; D009246:NADH Tetrazolium Reductase / Q000378:metabolism
chemical_list: D006003:Glycogen; D009246:NADH Tetrazolium Reductase; D006597:Fructose-Bisphosphatase; D000251:Adenosine Triphosphatases