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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: N468D
cDNA Position: 1402 a→g (exon 7)
Disease Genetics Frequency Reference
PEO Found in trans w/A1105T in 3 family members w/ PEO (Wanrooij et al., 2004)
PubMed
Microcephaly, cerebellar atrophy, hypotonia, and retinitis pigmentosa Found as a heterozygous mutation in a 15 y.o. female w/ progressive cerebellar atrophy, hypotonia, and retinitis pigmentosa. <0.5% in a Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Sensory neuropathy and PEO Heterozygous. Found in 3 related patients. A father with PEO, and a son with cerebellar ataxia and dysphagia, and the father's sister with PEO only (Schulte et al., 2009)
PubMed
Opthmalplegia and peripheral neuropathy Found in trans w/T851A in a 49 y.o. female with ptosis, lower limb weakness, sensory ataxia, gastrointestinal symptoms, and peripheral neuropathy 1 in 322 mitochondrial disease patients (Woodbridge et al., 2012)
PubMed
MDS Found in a large cohort study. (Hikmat et al., 2020)
PubMed
Epilepsy Found in a cross-sectional study of 22676 genetic variants associated with epilepsy (SoRelle et al., 2020)
PubMed
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