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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: R807C
cDNA Position: 2419 c→t (exon 14)
Disease Genetics Frequency Reference
SANDO Found in compound w/P648R in a 39 y.o. patient. (Gago et al., 2006)
PubMed
Alpers Found in trans with E1143G and W748S in a 1 y.o. with epilepsy and Encephalopathy (Isohanni et al., 2011)
PubMed
Ptosis and myopathy Found as a heterozygous mutation in a 74 y.o. male with myopathy, ptosis, and diplopia (Ferreira et al., 2011)
PubMed
SANDO Found in trans with P648R in a 49 y.o. pt. with SANDO and mtDNA deletions. (Ferreira et al., 2011)
PubMed
Liver failure Found in trans w/ A467T in a 1 y.o. w/ encephalopathy, liver failure, and lactic acidosis Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Parkinsonism and SANDO Found in trans w/P648R ina 52 y.o. male with ptosis, muscle weakness,dysphagia, and SANDO with mtDNA deletions and only 5% COX negative ragged red muscle fibers (Miguel et al., 2014)
PubMed
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