A Novel mtDNA Point Mutation in Maternally Inherited Cardiomyopathy

Abstract excerpt

A novel mtDNA mutation at position nt. 4300 in the tRNAIle gene is associated with hypertrophic cardiomyopathy inherited as a maternal trait. Interestingly, this mutation seems to cause a pure heart disease as opposed to most other mtDNA mutations, which are associated with multisystemic disorders. Hypertrophic cardiomyopathies are genetically heterogeneous, and mtDNA defects should be considered in the...

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