MATERNALLY INHERITED CARDIOMYOPATHY - A NEW PHENOTYPE ASSOCIATED WITHTHE A TO G AT NT.3243 OF MITOCHONDRIAL-DNA (MELAS MUTATION)

Authors
SILVESTRI G BERTINI E SERVIDEI S RANA M ZACHARA E RICCI E TONALI P
Citation
G. Silvestri et al., MATERNALLY INHERITED CARDIOMYOPATHY - A NEW PHENOTYPE ASSOCIATED WITHTHE A TO G AT NT.3243 OF MITOCHONDRIAL-DNA (MELAS MUTATION), Muscle & nerve, 20(2), 1997, pp. 221-225
Citations number
11
Categorie Soggetti
Neurosciences
Journal title
Muscle & nerve → ACNP
ISSN journal
0148639X
Volume
20
Issue
2
Year of publication
1997
Pages
221 - 225
Database
ISI
SICI code
0148-639X(1997)20:2<221:MIC-AN>2.0.ZU;2-A
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 f amily affected by a maternally inherited form of hypertrophic cardiomy opathy, These findings suggest adding cardiomyopathy in the list of ph enotypes associated with the 3243 mutation. (C) 1997 John Wiley & Sons , Inc.