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Human DNA Polymerase Gamma Mutation Database

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

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Amino Acid Substitution: E895G cDNA Position: 2684 a→g (exon 17)
Disease	Genetics	Frequency	Reference
Myopathic MDS	Found in one newborn with floppiness and 20% liver mtDNA depletion, heterozygous		(Spinazzola et al., 2009) PubMed

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Last Reviewed: October 07, 2024