J Korean Neurol Assoc.
2012 Aug;30(3):214-217.
Autosomal Dominant Type of Chronic Progressive External Ophthalmoplegia With Elevated Acetylcholine Receptor Binding Antibody
- Affiliations
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- 1Department of Neurology, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Korea. biggirl77@medimail.co.kr
- 2Department of Neurology, Pusan National University Yangsan Hospital, Pusan National University College of Medicine, Yangsan, Korea.
Abstract
- 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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