Key result
The A to G transition at nt.3243 of mitochondrial DNA, commonly associated with MELAS, is linked to a maternally inherited form of hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy is a phenotype that can be associated with the MELAS 3243 mtDNA mutation.
May warrant mtDNA screening in maternally inherited HCM; extends phenotypic spectrum of 3243 mutation but hypothesis-generating.
The A to G transition at nt.3243 of the tRNALeu(UUR) gene of mtDNA, commonly associated with MELAS, was detected in several members of a family affected by a maternally inherited form of hypertrophic cardiomyopathy. These findings suggest adding cardiomyopathy in the list of phenotypes associated with the 3243 mutation.
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Silvestri et al. (1997) studied this question. The A to G transition at nt.3243 of mitochondrial DNA, commonly associated with MELAS, is linked to a maternally inherited form of hypertrophic cardiomyopathy.
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