New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation. [electronic resource]
Producer: 20050617Description: 364-71 p. digitalISSN:- 0960-8966
- Adolescent
- Adult
- DNA Mutational Analysis -- methods
- DNA, Mitochondrial -- genetics
- Electron Transport Complex IV -- metabolism
- Electrophoresis -- methods
- Female
- Humans
- Male
- Microscopy, Electron, Transmission -- methods
- Mitochondria, Muscle -- pathology
- Mitochondrial Encephalomyopathies -- enzymology
- Mitochondrial Proteins -- metabolism
- Muscle, Skeletal -- enzymology
- Mutation
- Nucleic Acid Conformation
- Phenotype
- RNA, Transfer, Ser -- chemistry
- Serine -- metabolism
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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