Autosomal Dominant Type of Chronic Progressive External
Ophthalmoplegia With Elevated Acetylcholine Receptor Binding
Antibody

J Korean Neurol Assoc > Volume 30(3); 2012 > Article

Journal of the Korean Neurological Association 2012;30(3): 214-217.

아세틸콜린수용체항체가 상승된 보통염색체우성 만성진행외안근마비

고민수, 김민수 권지현 김욱주 이은미 김선영 김대성

울산대학교 의과대학 울산대학교병원 신경과, 부산대학교 의과대학 양산부산대학교병원 신경과 a

Autosomal Dominant Type of Chronic Progressive External Ophthalmoplegia With Elevated Acetylcholine Receptor Binding Antibody

Min-Soo Ko,

Department of Neurology, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Korea Department of Neurology a , 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. Key Words: Acetylcholine receptor binding antibody, CPEO