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

Gabriella Silvestri, Enrico Bertini, Serenella Servidei, Michele Rana, Elisabetta Zachara, Enzo Ricci, Pietro Tonali

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)221-225
Number of pages5
JournalMuscle and Nerve
Volume20
Issue number2
DOIs
Publication statusPublished - 1997

Keywords

  • cardiomyopathy
  • maternal inheritance
  • MELAS mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Fingerprint Dive into the research topics of 'Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation)'. Together they form a unique fingerprint.

Cite this