Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. [electronic resource]
Producer: 20101124Description: 507-12 p. digitalISSN:- 1468-6244
- Adolescent
- Adult
- Amino Acid Sequence
- Amino Acid Substitution -- genetics
- Base Sequence
- Child, Preschool
- DNA Mutational Analysis
- Electron Transport Complex I -- genetics
- Family
- Female
- Homozygote
- Humans
- Leigh Disease -- diagnostic imaging
- Leukocytes, Mononuclear -- enzymology
- Magnetic Resonance Imaging
- Male
- Methyltransferases -- chemistry
- Mitochondrial Proteins -- chemistry
- Molecular Sequence Data
- Morocco
- Mutation -- genetics
- Pedigree
- Tomography, X-Ray Computed
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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