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

Gabriella Silvestri, Serenella Servidei, Enzo Ricci, Enrico Bertini, Elisabetta Zachara

Risultato della ricerca: Contributo in rivistaArticolo in rivista

50 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)221-225
Numero di pagine5
RivistaMUSCLE & NERVE
Volume20
DOI
Stato di pubblicazionePubblicato - 1997

Keywords

  • cardiomyopathy
  • mtDNA
  • MELAS mutation
  • maternal inheritance

Fingerprint

Entra nei temi di ricerca di 'Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation)'. Insieme formano una fingerprint unica.

Cita questo