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...

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Autors principals: Komulainen, Tuomas, Hinttala, Reetta, Kärppä, Mikko, Pajunen, Leila, Finnilä, Saara, Tuominen, Hannu, Rantala, Heikki, Hassinen, Ilmo, Majamaa, Kari, Uusimaa, Johanna
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2010
Matèries:
Research article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2873323/
https://ncbi.nlm.nih.gov/pubmed/20438629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-10-29
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