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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: D1184N
cDNA Position: 3550 g→a (exon 22)
Disease Genetics Frequency Reference
PEO and tetraparesis Compound in trans with N468D 24 patients diagnosed with mitochondrial disease and having multiple mtDNA deletions compared to 100 controls in a Spanish population. (Gonzalez - Vioque et al., 2006)
PubMed
Multi-system disorder Found in compound with R227W in 2 children w/ severe childhood multi-system disorder de Vries et al. , 2007 identified 1 (4.76%) children out of 21 with a POLG mutation that were known to have a mitochondrial disorder (de Vries et al., 2007)
PubMed
Failure to thrive ar, found in trans w/ S1095R. Aslo, impaired liver functions, deafness, and demyelating sensomotor neuropathy <0.5% in Dutch population (Blok and van den Bosch et al., 2009)
PubMed
PEO Found as a heterozygous mutation in a 70 yo male with PEO, neuronopathy, and parkinsonism Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
PEO Found as a heterozygous mutation in a 75 yo male with PEO and neuronopathy Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
PEO Found in compound w/T251I and P587L in a 33 y.o. female patient w/ chronic intestinal pseudo-obstruction, PEO, and ataxia. In 5 out of 80 patients w/ chronic intestinal pseudo-obstruction (Amiot et al., 2009)
PubMed
PEO Found in compound w/P587L and T251I in a 30 y.o. male patient w/ chronic intestinal pseudo-obstruction and PEO. In 5 out of 80 patients w/ chronic intestinal pseudo-obstruction (Amiot et al., 2009)
PubMed
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