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Human DNA Polymerase Gamma Mutation Database


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

To search for multiple exons, hold <Ctrl> while selecting multiple options.

Amino Acid Substitution: R869Q
cDNA Position: 2606 g→a (exon 17)
Disease Genetics Frequency Reference
Myopathy w/ neurogenic atrophy; sensomotor axonal polyneuropathy, ataxia, and ptosis Autosomal recessive, found in a 32 yr. old pt. <0.5% in Dutch population (Blok and van den Bosch et al., 2009)
PEO Found in trans w/ K319E in a 44 y.o. w/ PEO, ataxia, neuropathy, and muscle weakness Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
SANDO Found in trans w/P587L and w/T251I in a 34 y.o. female with ataxia, ptosis, diabetes and mtDNA deletions. (Hanisch et al., 2014)
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