The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNALeu(CUN) and is associated with dilated cardiomyopathy

European Journal of Human Genetics

Volumn 9, Issue 4, 2001, Pages 311-315

  Grasso, Maurizia ^a   Diegoli, Marta ^b   Brega, Agnese ^b,c   Campana, Carlo ^a   Tavazzi, Luigi ^a   Arbustini, Eloisa ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

Dilated cardiomyopathy; Mitochondrial DNA; TRNALeu(CUN)

Indexed keywords

CYTOCHROME C OXIDASE; LEUCINE; MITOCHONDRIAL DNA; NUCLEOTIDE; RIBOSE PHOSPHATE; TRANSFER RNA;

ADULT; ANTICODON; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; DNA CONTENT; ENZYME ACTIVITY; GENE MUTATION; GENETIC CONSERVATION; GENETIC POLYMORPHISM; HEART DILATATION; HEART MUSCLE; HEART MUSCLE BIOPSY; HEART MUSCLE CELL; HUMAN; MALE; MITOCHONDRION; MORPHOLOGY; MUTANT; PRIORITY JOURNAL; RNA STRUCTURE;

ADULT; BASE SEQUENCE; CARDIOMYOPATHY, DILATED; CONSERVED SEQUENCE; DNA, MITOCHONDRIAL; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID CONFORMATION; RNA, TRANSFER, LEU;

EID: 0035058912     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200622     Document Type: Article

References (18)

1. Leu(UUR)
2. Leu(UUR) gene associated with maternally inherited cardiomyopathy
3. Ile mutation in fatal cardiomyopathy
4. Lys gene (G8363A)
5. Mitochondrial mutation in fatal infantile cardiomyopathy
6. Cardiac involvement in mitochondrial disease. A study on 17 patients with documented mitochondrial DNA defects
7. Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNAGlycine gene
8. An additional mitochondrial tRNAIle point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy
9. Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy
10. Coexistence of mitochondrial DNA and β-myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure
11. A novel mtDNA mutation in maternally inherited cardiomyopathy
12. A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy
13. Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy
14. Idiopathic cardiomyopathy: Mitochondrial and cytoplasmic alterations in heart and liver
15. MtDNA-related idiopathic dilated cardiomyopathy
16. Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy