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POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Tuomas T Komulainen, Reetta R Hinttala, Mikko M Kärppä, Leila L Pajunen, Saara S Finnilä, Hannu H Tuominen, Heikki H Rantala, Ilmo I Hassinen, Kari K Majamaa, and Johanna J Uusimaa

BMC Neurol (2010) PMID 20438629

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.

DOI: 10.1186/1471-2377-10-29
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