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tRNAIle

Sunday 1 January 2012

Pathology

The novel m.4322dupC mutation in tRNA gene, which is possibly associated to the disease, to isolated idiopathic dilated cardiomyopathy.

It was localized in a hot-spot region for mutations and is possibly pathogenic because of a cosegregation with the matrilineal transmission of idiopathic dilated cardiomyopathy.

References

- A novel mitochondrial DNA tRNAIle (m.4322dupC) mutation associated with idiopathic dilated cardiomyopathy. Mahjoub S, Sternberg D, Boussaada R, Filaut S, Gmira F, Mechmech R, Jardel C, Arab SB. Diagn Mol Pathol. 2007 Dec;16(4):238-42. PMID: #18043288#