Autosomal Dominant Type of Chronic Progressive External Ophthalmoplegia With Elevated Acetylcholine Receptor Binding Antibody.
- Author:
Min Soo KO
1
;
Min Soo KIM
;
Jee Hyun KWON
;
Wook Joo KIM
;
Eun Mi LEE
;
Sun Young KIM
;
Dae Seong KIM
Author Information
1. Department of Neurology, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Korea. biggirl77@medimail.co.kr
- Publication Type:Case Report
- Keywords:
Acetylcholine receptor binding antibody;
CPEO
- MeSH:
Acetylcholine;
Kearns-Sayre Syndrome;
Mitochondrial Myopathies;
Myasthenia Gravis;
Ophthalmoplegia;
Ophthalmoplegia, Chronic Progressive External
- From:Journal of the Korean Neurological Association
2012;30(3):214-217
- CountryRepublic of Korea
- Language:Korean
-
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.
