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Human DNA Polymerase Gamma Mutation Database


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

To search for multiple exons, hold <Ctrl> while selecting multiple options.

Amino Acid Substitution: R853W
cDNA Position: 2557 c→t (exon 16)
Disease Genetics Frequency Reference
PEO with ptosis Found as compound in trans with P587L Parkinsonism in compound in trans with G737R 24 patients diagnosed with mitochondrial disease and having multiple mtDNA deletions compared to 100 controls in a Spanish population. (Gonzalez - Vioque et al., 2006)
Parkinsonism (Davidzon et al., 2006)
Parkinsonism Found in trans with G737R in a 32 y.o. female with early signs of Parkinsonism and COX negative muscle fibers. Levodopa-responsive. (Rempe et al., 2016)
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