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.

Silvestri, G., Bertini, E., Servidei, S., Rana, M., Zachara, E., Ricci, E., Tonali, P., Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation), <<MUSCLE & NERVE>>, 1997; 20 (2): 221-225. [doi:10.1002/(SICI)1097-4598(199702)20:2<221::AID-MUS13>3.0.CO;2-5] [http://hdl.handle.net/10807/166585]

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

Silvestri, Gabriella;Servidei, Serenella;Ricci, Enzo;
1997

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.
1997
AREA06 - SCIENZE MEDICHE
Pubblicazione su rivista con Impact Factor
Inglese
Articolo in rivista
Inglese
cardiomyopathy
maternal inheritance
MELAS mutation
mtDNA
Settore MED/26 - NEUROLOGIA
20
2
1997
221
225
5
info:eu-repo/semantics/article
Silvestri, G., Bertini, E., Servidei, S., Rana, M., Zachara, E., Ricci, E., Tonali, P., Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation), <<MUSCLE & NERVE>>, 1997; 20 (2): 221-225. [doi:10.1002/(SICI)1097-4598(199702)20:2<221::AID-MUS13>3.0.CO;2-5] [http://hdl.handle.net/10807/166585]
none
262
Silvestri, Gabriella; Bertini, E.; Servidei, Serenella; Rana, M.; Zachara, E.; Ricci, Enzo; Tonali, P.
7
art_per_29
03. Contributo in rivista::Articolo in rivista, Nota a sentenza
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/166585
Citazioni
  • ???jsp.display-item.citation.pmc??? 8
  • Scopus 55
  • ???jsp.display-item.citation.isi??? 48
social impact