Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. [electronic resource]
Producer: 20160428Description: 3948-55 p. digitalISSN:- 1460-2083
- Apoptosis Regulatory Proteins -- genetics
- Child
- Child, Preschool
- Dyskinesias -- genetics
- Electron Transport Complex I -- deficiency
- Female
- Follow-Up Studies
- Humans
- Image Processing, Computer-Assisted
- Magnetic Resonance Imaging
- Mitochondrial Diseases -- genetics
- Muscle Hypotonia -- genetics
- Mutation
- NADH, NADPH Oxidoreductases -- genetics
- Open Reading Frames
- Pedigree
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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