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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: R597W
cDNA Position: 1789 c→t (exon 10)
Disease Genetics Frequency Reference
PEO with ataxia Homozygous (Stewart et al., 2009)
PubMed
PEO, seizures, and VPA induced liver failure Found as a homozygote in an 18 y.o. with PEO, neuropathy, seizures, and VPA induced hepatotoxicity Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Encephalopathy and ataxia Found in trans w/ A467T in a 26 y.o. w/ encephalopathy, ataxia, neuropathy, and ptosis. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
SANDO Found in trans w/A467T in a 20 y.o. with ataxia, polyneuropathy, ophthalmoparesis, and dysarthria, (Bereau et al., 2016)
PubMed
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