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Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation

BACKGROUND: Disorders of oxidative phosphorylation affects 1/5000 individuals and present heterogeneous involvement of tissues highly dependent upon ATP production. CASE PRESENTATION: Here we present the case of a 48-year-old woman carrying a homozygous mutation (p.A899T) in mitochondrial polymerase...

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Detalles Bibliográficos
Autores principales: Bandettini di Poggio, Monica, Nesti, Claudia, Bruno, Claudio, Meschini, Maria Chiara, Schenone, Angelo, Santorelli, Filippo M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3851930/
https://www.ncbi.nlm.nih.gov/pubmed/24099403
http://dx.doi.org/10.1186/1471-2350-14-105