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
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.