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KMID : 0359720120300030214
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Journal of the Korean Neurological Association
2012 Volume.30 No. 3 p.214 ~ p.217
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Autosomal Dominant Type of Chronic Progressive External Ophthalmoplegia With Elevated Acetylcholine Receptor Binding Antibody
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Ko Min-Soo
Kim Min-Soo
Kwon Jee-Hyun
Kim Wook-Joo
Lee Eun-Mi
Kim Sun-Young
Kim Dae-Seong
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Abstract
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External ophthalmoplegia and ptosis are common manifestations of mitochondrial cytopathy, such as chronic progressive external ophthalmoplegia (CPEO). However, these symptoms and signs may also be presenting features of myasthenia gravis (MG). There are a few reports of CPEO with elevated acetylcholine receptor antibody (AchR-Ab). We report a case of AD-type CPEO with elevated acetylcholine receptor binding antibody. We confirmed a mutation on the SLC25A4 gene by molecular analysis.
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KEYWORD
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Acetylcholine receptor binding antibody, CPEO
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