Article
A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson's Disease.
Journal of Parkinson's disease - 1 Jan 2017
Vilas Dolores, Fernández-Santiago Rubén, Sanchez Elena, Azcona Luis J, Santos-Montes Meritxell, Casquero Pilar, Argandoña Lucía, Tolosa Eduardo, Paisán-Ruiz Coro
Abstract excerpt
BACKGROUND: Common genetic variability in the ACMSD gene has been associated with increased risk for Parkinson's disease (PD) but ACMSD mutations in clinical cases of PD have so far not been reported. OBJECTIVE: To describe a case of sporadic PD carrying a novel ACMSD mutation. METHODS: As part of a genetic study to identify potential pathogenic gene defects related to PD in the Mediterranean island Menorca, an...
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