title: A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.
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 mutation was present in heteroplasmic fashion (88%) in muscle and fulfills accepted criteria for pathogenicity. This is the fourth pathogenic mutation identified in this gene, which appears to be a "hotspot" for deleterious mutations affecting the heart. This report adds to the evidence of genetic heterogeneity in hypertrophic cardiomyopathies.
mesh_terms: D001483:Base Sequence; D001927:Brain Diseases / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000737:chemistry*; D005260:Female; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D012355:RNA, Transfer, Ile / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial; D012355:RNA, Transfer, Ile