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Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation)



Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation)



Muscle and Nerve 20(2): 221-225



The A to G transition at nt.3243 of the tRNA-Leu(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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Accession: 008995855

Download citation: RISBibTeXText

PMID: 9040662

DOI: 10.1002/(sici)1097-4598(199702)20:2<221::aid-mus13>3.0.co;2-5


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