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Human DNA Polymerase Gamma Mutation Database


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

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Amino Acid Substitution: R574W
cDNA Position: 1720 c→t (exon 10)
Disease Genetics Frequency Reference
PEO Found in trans w/ W312R in a 37 y.o. male patient w/ PEO, dysphagia, and myopathy. Not found in 250 control individuals (Horvath et al., 2006)
Liver failure, encephalopathy, and epilepsy Found in trans w/A467T in 2 family members whose parent are unaffected heterozygotes. Kollberg, 2006: Not found in 200 control alleles (Kollberg et al., 2006)
Alpers Found in trans w/ A467T (Spinazzola et al., 2009)
Alpers Found in trans w/ A467T in 2 pediatric patients w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement (Sofou et al., 2012)
Progressive ataxia and epilepsy Found in trans w/ L411P in a 69 y.o. female with progressive gait ataxia, dysarthria, and myoclonic jerks. ( Ng et al., 2017)
MDS Found in a large cohort study. (Hikmat et al., 2020)
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