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Maternally Inherited Mitochondrial Cardiomyopathy Associated with a C-to-T Transition at Nucleotide 3303 of Mitochondrial DNA in the tRNALeu(UUR)Gene

✍ Scribed by Jeffrey D. Goldstein; Sara Shanske; Claudio Bruno; Anthony A. Perszyk


Publisher
Springer
Year
1999
Tongue
English
Weight
913 KB
Volume
2
Category
Article
ISSN
1093-5266

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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 w