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Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype
BACKGROUND: Mitochondrial DNA maintenance disorders are an important cause of hereditary ataxia syndrome, and the majority are associated with mutations in the gene encoding the catalytic subunit of the mitochondrial DNA polymerase (DNA polymerase gamma), POLG. Mutations resulting in the amino acid...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4295309/ https://www.ncbi.nlm.nih.gov/pubmed/25488682 http://dx.doi.org/10.1186/1756-0500-7-883 |