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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.

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


Amino Acid Substitution: P648R
cDNA Position: 1943 c→g (exon 10)
Disease Genetics Frequency Reference
SANDO Found in compound w/R807C in a 39 y.o. patient. (Gago et al., 2006)
PubMed
PEO + myopathy ar, Found as either homozygous mutation or as compound in trans with R1096C in PEO. Not found in 250 control individuals (Horvath et al., 2006)
PubMed
Ptosis and myopathy Found in trans with T251I and P587L in a 59 y.o. male with dysphagia, dysphonia, myopathy, ptosis, and mtDNA deletions. Father had same symptoms. (Ferreira et al., 2011)
PubMed
SANDO Found in trans with R807C in a 49 y.o. pt. with SANDO and mtDNA deletions (Ferreira et al., 2011)
PubMed
PEO Found in trans with W585X in a 50 y.o. male with PEO, dysphagia, dysphonia, and parkinsonism with mtDNA deletions (Ferreira et al., 2011)
PubMed
Parkinsonism and SANDO Found in trans w/R807C 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
PEO Found as a homozygous mutation in a 61 y.o. female with dysarthria, dysphagia, cataract, ataxia, polyneuropathy, thyropathy, and upper cerebellar cyst. Patient has mtDNA deletions and ragged red muscle fibers. (Pozzo et al., 2017)
PubMed
Neuropathy w/ cataracts and glaucome Found with H932Y in a 1 y.o. male with uppper and lower limb distal neuromyopathy with ragged red fiberes, cataracts. Later developed strabismus, ptosis, glaucoma, and muscle weakness. (Castiglioni et al., 2018)
PubMed
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