Abstract
Tubular aggregates (TAs) are inclusions described in skeletal muscle in a variety of disorders. In a retrospective analysis, TAs were found in 18 (0.24%) cases and involved a spectrum of clinical phenotypes. Ultrastructurally, four distinct types of aggregates were noted. There was no correlation between the clinical phenotypes, duration of illness and types of TAs.
MeSH terms
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Adenosine Triphosphatases / metabolism
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Adolescent
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Adult
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Child
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Child, Preschool
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Electron Transport Complex IV / metabolism
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Female
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Humans
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Magnetic Resonance Imaging
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Male
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Microscopy, Electron, Transmission / methods
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Middle Aged
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Muscle, Skeletal / enzymology
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Muscle, Skeletal / pathology*
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Muscle, Skeletal / ultrastructure
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Myopathies, Structural, Congenital / pathology*
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Myopathies, Structural, Congenital / physiopathology*
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NAD / metabolism
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Phenotype
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Retrospective Studies
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Succinate Dehydrogenase / metabolism
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Tomography, X-Ray Computed
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Young Adult
Substances
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NAD
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Succinate Dehydrogenase
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Electron Transport Complex IV
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Adenosine Triphosphatases