Human DNA Polymerase Gamma Mutation Database

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All inquiries, additions to the list, and comments should be made to Bill Copeland.

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Amino Acid Substitution: A767D cDNA Position: 2300 c→a (exon 14)
Disease	Genetics	Frequency	Reference
Alpers	Found as compound in trans with G737R	Not found in 250 control individuals	(Horvath et al., 2006) PubMed
Epilepsy	Found with G737R in a 1 y.o. male. Patient also had myopathy. In a study using patient fibroblasts, the cells were unable to up regulate mitochondrial biogenesis when exposed to Valproic acid.		(Sitarz et al., 2014) PubMed