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: S433C cDNA Position: 1298 c→g (exon 7)
Disease	Genetics	Frequency	Reference
PEO- ataxia, peripheral neuropathy	Found in trans with E1143G in a patient with PEO, ataxia, peripheral neuropathy, and episodes of encephalopathy. Mother had heterozygous E1143G variant, but was asymptomatic.	Hudson, 2006: Not detected in 200 controls	(Hudson et al., 2006a) PubMed
PEO	Sporadic, Found in trans with E1143G	Not found in 250 control individuals	(Horvath et al., 2006) PubMed