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.
|Numero di pagine||5|
|Rivista||MUSCLE & NERVE|
|Stato di pubblicazione||Pubblicato - 1997|
- MELAS mutation
- maternal inheritance