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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: H932Y
cDNA Position: 2794 c→t (exon 18)
Disease Genetics Frequency Reference
PEO and mtDNA deletions Found in compound w/T251I/ P587L in1 pt. The study includes 31 mitochondrial myopathy patients w/ mtDNA deletions. Di Fonzo 2003: Not found in 100 DNA samples from healthy Italians (Di Fonzo et al., 2003)
PubMed
PEO Found in compound with G1051R in 2 family members PEO not seen in 120 control subjects. (Mancuso et al., 2004a)
PubMed
Isolated distal myopathy of the upper limbs w/ mtDNA depletion (Giordano et al., 2010)
PubMed
PEO Found in trans w/ P587L and T251I in a 31 y.o. w/ neuropathy, PEO, ptosis, and COX deficiency. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Peripheral Neuropathy Found in trans w/ T251I and P587L in a 40 y.o. w/ peripheral neuropathy, ptosis, and muscle weakness. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Neuropathy w/ cataracts and glaucome Found in trans with P648R 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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