Article
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
BMC neurology - 3 May 2010
Komulainen Tuomas, Hinttala Reetta, Kärppä Mikko, Pajunen Leila, Finnilä Saara, Tuominen Hannu, Rantala Heikki, Hassinen Ilmo, Majamaa Kari, Uusimaa Johanna
Abstract excerpt
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: Probands from two families with probable mitochondrial disease were examined clinically, muscle and buccal epithelial DNA...
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