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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: R943C cDNA Position: 2827 c→t (exon 18)
Disease	Genetics	Frequency	Reference
Myocerebrohepatopathy	In cis w/ E1143G and in trans w/G737R		(Wong et al., 2008) PubMed
PEO and Parkinsonism	Found in trans w/H227L in a 78 y.o. Japanese malewith parkinsonism. Also found as a heterozygous mutation in a second unrelated 68 y.o. malewith PEO.	not found in 50 ethnically matched controls	(Sato et al., 2011) PubMed
Neuropathy w/ cataracts and glaucome	Found in trans with T25lI/P57L in an 8 mo. female with uppper and lower limb distal neuromyopathy with ragged red fiberes, cataracts. Later developed ophthalmoparesis, glaucoma, and muscle wasting.		(Castiglioni et al., 2018) PubMed
Neuropathy w/ cataracts and glaucome	Found in trans with T251I/P587L in an 24 mo. female with uppper and lower limb distal neuromyopathy with ragged red fiberes, cataracts. Later developed ophthalmoparesis, glaucoma, and muscle wasting.		(Castiglioni et al., 2018) PubMed

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