A novel G3337A mitochondrial ND1 mutation related to cardiomyopathy co-segregates with tRNALeu(CUN) A12308G and tRNAThr C15946T mutations. [electronic resource]
Producer: 20081022Description: 229-36 p. digitalISSN:- 1567-7249
- Aged
- Amino Acid Sequence
- Amino Acid Substitution
- Cardiomyopathies -- genetics
- Case-Control Studies
- DNA Mutational Analysis
- DNA, Mitochondrial -- genetics
- Electron Transport Complex I -- genetics
- Family
- Female
- Genetic Predisposition to Disease
- Humans
- Infant, Newborn
- Methionine -- metabolism
- Mitochondria -- genetics
- Molecular Sequence Data
- Molecular Structure
- Mutation
- NADH Dehydrogenase -- chemistry
- Pedigree
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single-Stranded Conformational
- Protein Structure, Secondary
- RNA, Transfer, Leu -- genetics
- RNA, Transfer, Thr -- genetics
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Publication Type: Case Reports; Journal Article
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