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Your Environment. Your Health.

Human DNA Polymerase Gamma Mutation Database

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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: G11D
cDNA Position: 32 g→a (exon 2)
Disease Genetics Frequency Reference
Ataxia Neuropathy Found in cis with R627Q and in trans with R852C, and also found as a Heterozygous mutation with a failure to thrive (Wong et al., 2008)
PubMed
Alpers Found in cis w/ R852C and in trans w/ W748S. In a second pt. found in cis w/R852C and in trans w/ A467T. (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
Alpers Found in cis w/ R852C and in trans w/ A467T. In a 2nd pt., found in cis w/ R852C and in trans w/ W748S and E1143G (Stewart et al., 2009)
PubMed
Leigh Syndrome Found in cis with R852C and in trans with W748S (Naess et al., 2009)
PubMed
Multiple system atrophy Found with R852C in a 58 y.o. female with progressive cerebellar atrophy. Pt. had mtDNA deletions and mtDNA depletion. (Mehta et al., 2011)
PubMed
Seizures and liver failure Found in trans w/ A467T and in cis w/ R852C in an 8 mo. w/ seizures, liver failure, and lactic acidosis. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Encephalopathy Found in cis w/ R852C and in trans w/ R627Q in a 25 y.o. w/ dementia, encephalopathy, and stroke. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
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