A Case of Oculopharyngeal Muscular Dystrophy Due to a Novel Mutation of the PABPN1 Gene
Journal of the Korean Neurological Association
;
: 278-281, 2005.
Article
Dans Coréen
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Troubles de la déglutition
/
Dystrophie musculaire oculopharyngée
/
Dysarthrie
/
Corée
/
Dystrophies musculaires
Limites du sujet:
Humains
Pays comme sujet:
Asie
langue:
Coréen
Texte intégral:
Journal of the Korean Neurological Association
Année:
2005
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS