Human DNA Polymerase Gamma Mutation Database

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Amino Acid Substitution: K561M cDNA Position: 1882 a→t (exon 9)
Disease	Genetics	Frequency	Reference
Dysmorphy, hypotonia, coloboma, heart failure, and liver insufficiency	Compound heterozygosity in cis with W748S	Sarzi et al. 2007 reported 2% (n=50) of patients with multiple respiratory chain deficiency with a 35% decrease of mtDNA were found with the mutation K561M in cis with W748S.	(Sarzi et al., 2007) PubMed