A Case of Oculopharyngeal Muscular Dystrophy Due to a Novel Mutation of the PABPN1 Gene
Journal of the Korean Neurological Association
;
: 278-281, 2005.
Artigo
em Coreano
| WPRIM
| ID: wpr-191265
ABSTRACT
We recently encountered a Korean patient with oculopharyngeal muscular dystrophy (OPMD). His major clinical manifestations were late onset bilateral ptosis, dysarthria, and dysphagia. Direct sequencing analysis of the PABPN1 gene demonstrated a heterozygous insertion of 9 bp sequence [(GCG)(GCA)(GCA); c.28insGCGGCA GCA], resulting in an in-frame insertion of 3 alanines (p. A10insAAA). To our knowledge, this is the first report of a genetically confirmed case of OPMD in Korea.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Transtornos de Deglutição
/
Distrofia Muscular Oculofaríngea
/
Disartria
/
Coreia (Geográfico)
/
Distrofias Musculares
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2005
Tipo de documento:
Artigo
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