Abstract
We report two patients with polyglycosan body disease manifesting in adulthood. Clinical, electrophysiological, and histopathological characteristics of their disorders are summarized, and diagnostic classification is discussed.
Publication types
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Case Reports
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English Abstract
MeSH terms
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1,4-alpha-Glucan Branching Enzyme / deficiency*
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1,4-alpha-Glucan Branching Enzyme / genetics
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Aged
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Biopsy
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Diagnosis, Differential
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Female
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Glycogen Debranching Enzyme System / deficiency*
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Glycogen Debranching Enzyme System / genetics
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Glycogen Storage Disease Type III / diagnosis
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Glycogen Storage Disease Type III / genetics*
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Glycogen Storage Disease Type III / pathology
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Glycogen Storage Disease Type IV / diagnosis
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Glycogen Storage Disease Type IV / genetics*
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Glycogen Storage Disease Type IV / pathology
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Humans
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Male
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Muscle, Skeletal / pathology
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Myositis, Inclusion Body / diagnosis
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Myositis, Inclusion Body / genetics*
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Myositis, Inclusion Body / pathology
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Vacuoles / pathology
Substances
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Glycogen Debranching Enzyme System
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1,4-alpha-Glucan Branching Enzyme