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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.

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


Amino Acid Substitution: G426S
cDNA Position: 1276 g→a (exon 7)
Disease Genetics Frequency Reference
Epilepsy, ataxia, myoclonus, cataract, and cognitive delay ar, found in a 56 yr. old pt. with 2 siblings with epilepsy <0.5% in Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Seizures Found in trans w/ G737R in an 11 y.o. w/ seizures and an abnormal MRI Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
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