Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome. [electronic resource]
Producer: 20140623Description: 812-20 p. digitalISSN:- 1601-183X
- Adenosine Triphosphate -- biosynthesis
- Cell Line, Tumor
- Cell Proliferation
- DNA, Mitochondrial -- genetics
- Female
- Gene Dosage
- Haplotypes
- Heterozygote
- Humans
- Middle Aged
- Mitochondrial Myopathies -- diagnosis
- Mitochondrial Proteins -- genetics
- Mitochondrial Proton-Translocating ATPases -- genetics
- Mutation, Missense
- Oxidative Phosphorylation
- Retinitis Pigmentosa -- diagnosis
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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