Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course / 대한신경근육질환학회지
Korean Journal of Neuromuscular Disorders
; (2): 11-14, 2021.
Article
in Ko
| WPRIM
| ID: wpr-894577
Responsible library:
WPRO
ABSTRACT
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathy caused by (GCN) expansions in the polyalanine binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11. This study reports a case of an incomplete clinical characteristics of OPMD with heterozygous (GCN)11 expansion. A fifty-nine-year-old Korean woman was suffering from non-progressive dysarthria, dysphagia for five years. Neurologic findings were unremarkable except for tongue atrophy and mild ptosis. A genetic screening confirmed heterozygous (GCN)11 expansion in the PABPN1 gene.
Full text:
1
Index:
WPRIM
Type of study:
Prognostic_studies
Language:
Ko
Journal:
Korean Journal of Neuromuscular Disorders
Year:
2021
Type:
Article