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: M603L cDNA Position: 1807 a→t (exon 10)
Disease	Genetics	Frequency	Reference
PEO with ptosis	Found as compound in trans with T251I-P587L	24 patients diagnosed with mitochondrial disease and having multiple mtDNA deletions compared to 100 controls in a Spanish population.	(Gonzalez-Vioque et al., 2006) PubMed