Autosomal Dominant Type of Chronic Progressive External Ophthalmoplegia With Elevated Acetylcholine Receptor Binding Antibody
Journal of the Korean Neurological Association
;
: 214-217, 2012.
Artigo
em 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Acetilcolina
/
Oftalmoplegia
/
Síndrome de Kearns-Sayre
/
Oftalmoplegia Externa Progressiva Crônica
/
Miopatias Mitocondriais
/
Miastenia Gravis
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2012
Tipo de documento:
Artigo
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