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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.

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Amino Acid Substitution: A862T
cDNA Position: 2584 g→a (exon 16)
Disease Genetics Frequency Reference
Ataxia Neuropathy Compound heterozygous with R964C (Wong et al., 2008)
PubMed
PEO with ataxia Found in trans w/R1047W in a 61 y.o. with PEO, ataxia, and mtDNA deletions (Stewart et al., 2009)
PubMed
Cerebellar ataxia, neuropathy, epilepsy, and restless leg syndrome Found heterozygous with R964C in 2 siblings that died in their early 20's (Stricker et al., 2009)
PubMed
Alpers-like Found in trans with R1081Q in a 7 y.o. male with Alpers-like symptoms. Affected sibling. (Ferreira et al., 2011)
PubMed
Alpers-like Found in trans with R1081Q in a 4 y.o. male with Alpers-like symptoms. Affected sibling. (Ferreira et al., 2011)
PubMed
Myelopathy,myopathy, peripheral neuropathy and subcortical grey matter degeneration Found in trans w/H277L in a 66 y.o. female with mtDNA deletions and subcortical grey matter degeneration (McKelvie et al., 2012)
PubMed
PEO Found in trans w/ R1047W in a 61 y.o. female with PEO, ptosis, peripheral neuropathy, ataxia, and dysarthria. (Lax et al., 2012a)
PubMed
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