Abstract
In two new cases of centronuclear myopathy, histochemical findings included failure to differentiate fiber type with oxidative enzymes, the presence of core glycogenosis, and core acid phosphatase activity. Fluorescence microscopy demonstrated autofluorescent lipochrome in fiber centers and nonspecific fiber injury in some immunofluorescent preparations. Electron microscopical findings included the observation of unusually small myofibrils arrayed between central nuclei.
MeSH terms
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Acid Phosphatase / metabolism
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Adenosine Triphosphatases / metabolism
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Adolescent
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Adult
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Cell Nucleus / ultrastructure
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Cholinesterases / metabolism
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Complement System Proteins
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Electron Transport Complex IV / metabolism
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Female
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Fluorescent Antibody Technique
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Fructose-Bisphosphate Aldolase / metabolism
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Glycogen Storage Disease / pathology
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Glycogen Synthase / metabolism
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Histocytochemistry
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Humans
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Isocitrate Dehydrogenase / metabolism
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L-Lactate Dehydrogenase / metabolism
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Male
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Microscopy, Electron
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Microscopy, Fluorescence
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Mitochondria, Muscle / enzymology
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Myofibrils / ultrastructure
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Neuromuscular Diseases / immunology
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Neuromuscular Diseases / pathology*
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Phosphorylases / metabolism
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Succinate Dehydrogenase / metabolism
Substances
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Complement System Proteins
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L-Lactate Dehydrogenase
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Isocitrate Dehydrogenase
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Succinate Dehydrogenase
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Electron Transport Complex IV
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Phosphorylases
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Glycogen Synthase
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Cholinesterases
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Acid Phosphatase
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Adenosine Triphosphatases
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Fructose-Bisphosphate Aldolase