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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: L752P
cDNA Position: 2255 t→c (exon 13)
Disease Genetics Frequency Reference
Epilepsy, seizures, VPA induced liver failure Found in trans w/W748S and E1143G (Zsurka, et al., 2008)
PubMed
Inclusion body myositis Found as a heterozygous mutation in a Swedish patient with Inclusion body myostitis. In addition the patient had COX deficient muscle fibers, ragged red fibers, and mtDNA deletions. 1 in 26 patients with inclusion body myositis. 8 of which had heterozygous POLG mutations. (Lindgen et al., 2015)
PubMed
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