Autosomal Dominant Type of Chronic Progressive External Ophthalmoplegia With Elevated Acetylcholine Receptor Binding Antibody
Journal of the Korean Neurological Association
;
: 214-217, 2012.
Artículo
en Coreano
| WPRIM
| ID: wpr-218542
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Acetilcolina
/
Oftalmoplejía
/
Síndrome de Kearns-Sayre
/
Oftalmoplejía Externa Progresiva Crónica
/
Miopatías Mitocondriales
/
Miastenia Gravis
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2012
Tipo del documento:
Artículo
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