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POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
BACKGROUND: The c.2447G>A (p.R722H) mutation in the gene POLG1 of the catalytic subunit of human mitochondrial polymerase gamma has been previously found in a few occasions but its pathogenicity has remained uncertain. We set out to ascertain its contribution to neuromuscular disease. METHODS: Pr...
| Autores principales: | , , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873323/ https://www.ncbi.nlm.nih.gov/pubmed/20438629 http://dx.doi.org/10.1186/1471-2377-10-29 |