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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2013
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| 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 |