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- Title
Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation).
- Authors
Silvestri, Gabriella; Bertini, Enrico; Servidei, Serenella; Rana, Michele; Zachara, Elisabetta; Ricci, Enzo; Tonali, Pietro; Silvestri, G; Bertini, E; Servidei, S; Rana, M; Zachara, E; Ricci, E; Tonali, P
- Abstract
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.
- Publication
Muscle & Nerve, 1997, Vol 20, Issue 2, p221
- ISSN
0148-639X
- Publication type
journal article
- DOI
10.1002/(SICI)1097-4598(199702)20:2<221::AID-MUS13>3.0.CO;2-5