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...

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Detalles Bibliográficos
Autores principales: Zabalza, Ramón, Nurminen, Anssi, Kaguni, Laurie S, Garesse, Rafael, Gallardo, M Esther, Bornstein, Belén
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
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

Internet

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

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