Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism

BACKGROUND: Mutations in the POLG1 gene have variable phenotypic presentations and a high degree of clinical suspicion is necessary for their recognition. Parkinsonism and ataxia are the most common movement disorders associated with POLG1 mutations but no phenotype-genotype correlation has been est...

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Detalles Bibliográficos
Autores principales: Dolhun, Rachel, Presant, Erin M, Hedera, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3728152/
https://www.ncbi.nlm.nih.gov/pubmed/23865558
http://dx.doi.org/10.1186/1471-2377-13-92

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3728152/
https://www.ncbi.nlm.nih.gov/pubmed/23865558
http://dx.doi.org/10.1186/1471-2377-13-92

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