Human DNA Polymerase Gamma Mutation Database

Search

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

Select a Mutation:

Search Mutation List:

Select Exon(s):

Select Domain(s):

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