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- W1990664863 abstract "Sixteen members of a family with a history of autosomal dominant progressive external ophthalmoplegia (adPEO) with hypogonadism were examined. The muscular involvement commenced cranially and descended in relation to increasing disease duration. The neuromuscular signs were PEO, dysarthria, dysphonia, limb muscle weakness with wasting, absence of Achilles tendon reflexes, and distal vibration sensory loss. The electromyogram (EMG) was myopathic in facial and proximal limb muscles. Neurogenic involvement was suspected in a few tibial anterior muscles. Neurography showed signs of axonal neuropathy correlated to clinical signs. F-responses were reduced in number or absent in peroneal nerves, and did not correlate to clinical signs or disease duration. Muscle biopsies in advanced cases had structural abnormalities of mitochondria, ragged-red fibers, and focal cytochrome c oxidase deficiency. A combination of muscle-nerve involvement with PEO, Achilles tendon areflexia, distal vibration sensory impairment, myopathic EMG, and abnormally low sural nerve responses seems to be typical of this type of mitochondrial disorder. © 1996 John Wiley & Sons, Inc." @default.
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- W1990664863 date "1996-06-01" @default.
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- W1990664863 title "Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism" @default.
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- W1990664863 doi "https://doi.org/10.1002/(sici)1097-4598(199606)19:6<751::aid-mus10>3.0.co;2-o" @default.
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