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: M430L cDNA Position: 1288 a→t (exon 7)
Disease	Genetics	Frequency	Reference
PEO with Parkinsonism	ar, Compound (in trans) heterozygous with W918R	Absent in 200 control alleles	(Invernizzi et al., 2008) PubMed
PEO	Found in trans with W918R in a 42 y.o. male with PEO and mtDNA deletions		(Ferreira et al., 2011) PubMed