A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. [electronic resource]
Producer: 20110606Description: 488-93 p. digitalISSN:- 1537-6605
- Amino Acid Sequence
- Amino Acid Substitution
- Base Sequence
- Cardiomyopathies -- enzymology
- Consanguinity
- DNA Mutational Analysis
- Electron Transport Complex IV -- chemistry
- Electrophoresis, Gel, Two-Dimensional
- Fatal Outcome
- Female
- Fibroblasts -- enzymology
- Genetic Complementation Test
- Homozygote
- Humans
- Infant, Newborn
- Male
- Mitochondrial Diseases -- enzymology
- Molecular Sequence Data
- Mutation, Missense
- Open Reading Frames
- Pedigree
- Protein Multimerization
- Sequence Homology, Amino Acid
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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