A NOVEL MITOCHONDRIAL-DNA POINT MUTATION ASSOCIATED WITH MITOCHONDRIAL ENCEPHALOCARDIOMYOPATHY

Citation
Fm. Santorelli et al., A NOVEL MITOCHONDRIAL-DNA POINT MUTATION ASSOCIATED WITH MITOCHONDRIAL ENCEPHALOCARDIOMYOPATHY, Biochemical and biophysical research communications, 216(3), 1995, pp. 835-840
Citations number
13
Categorie Soggetti
Biology,Biophysics
ISSN journal
0006291X
Volume
216
Issue
3
Year of publication
1995
Pages
835 - 840
Database
ISI
SICI code
0006-291X(1995)216:3<835:ANMPMA>2.0.ZU;2-V
Abstract
A novel mitochondrial DNA (mtDNA) mutation at position nt 4320 in the tRNA(Ile) gene was associated with severe encephalopathy in a 7-month- old infant, who died of intractable hypertrophic cardiomyopathy. The m utation was present in heteroplasmic fashion (88%) in muscle and fulfi lls accepted criteria for pathogenicity. This is the fourth pathogenic mutation identified in this gene, which appears to be a ''hotspot'' f or deleterious mutations affecting the heart. This report adds to the evidence of genetic heterogeneity in hypertrophic cardiomyopathies. (C ) 1995 Academic Press, Inc.