Valosin-containing-protein pathogenic variant p.R487H in Parkinson's disease.
Clin Park Relat Disord
; 10: 100236, 2024.
Article
en En
| MEDLINE
| ID: mdl-38283104
ABSTRACT
We describe a 66-year-old woman with Parkinson's disease, carrying a known pathogenic missense variant in the Valosin-containing-protein (VCP) gene. She responded excellently to L-dopa, had no cognitive or motoneuronal dysfunction. Laboratory analyses and MRI were unremarkable. Genetic testing revealed a heterozygous variant in VCP(NM_007126.5), chr9 (GRCh3 7)g.35060820C > T, c.1460G > A p.Arg487His (p.R487H).
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Clin Park Relat Disord
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Reino Unido