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- W1974448672 abstract "A 62-year-old man presented with diplopia, ocular ductional deficits, and sluggish pupils. Pupillometry demonstrated large hyporeactive pupils with no evidence of damage to the sympathetic or parasympathetic innervation, indicating a myopathy of the iris musculature. A single large deletion in mitochondrial DNA and characteristic histochemical features on muscle biopsy suggested a mitochondrial cytopathy. However, ultrastructural examination of skeletal muscle fibers showed tubular aggregates (TAs), a finding not reported in mitochondrial cytopathy. The combination of pupillary abnormalities and TAs suggests that mitochondrial dysfunction may not explain the full extent of abnormalities in this case." @default.
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- W1974448672 date "2010-06-01" @default.
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- W1974448672 title "Pupillary Dysfunction in an Atypical Case of Mitochondrial Myopathy With Tubular Aggregates" @default.
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- W1974448672 doi "https://doi.org/10.1097/wno.0b013e3181dbfdcd" @default.
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