SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. [electronic resource]
Producer: 20190627Description: 662-672 p. digitalISSN:- 1460-2156
- Adenosine Triphosphate -- metabolism
- Adult
- Animals
- Axons -- pathology
- Carrier Proteins -- genetics
- Cells, Cultured
- Charcot-Marie-Tooth Disease -- complications
- Child
- Copper -- deficiency
- DNA Mutational Analysis
- Electron Transport Complex IV -- metabolism
- Female
- Fibroblasts -- metabolism
- Humans
- Magnetic Resonance Imaging
- Male
- Mice
- Mice, Inbred C57BL
- Mice, Transgenic
- Mitochondrial Proteins -- genetics
- Models, Molecular
- Molecular Chaperones
- Mutation -- genetics
- Oxygen Consumption -- genetics
- Sciatic Nerve -- metabolism
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
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