TY  - GEN
AU  - Rebelo,Adriana P
AU  - Saade,Dimah
AU  - Pereira,Claudia V
AU  - Farooq,Amjad
AU  - Huff,Tyler C
AU  - Abreu,Lisa
AU  - Moraes,Carlos T
AU  - Mnatsakanova,Diana
AU  - Mathews,Kathy
AU  - Yang,Hua
AU  - Schon,Eric A
AU  - Zuchner,Stephan
AU  - Shy,Michael E
TI  - SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency
SN  - 1460-2156
PY  - 2019///0627
KW  - Adenosine Triphosphate
KW  - metabolism
KW  - Adult
KW  - Animals
KW  - Axons
KW  - pathology
KW  - Carrier Proteins
KW  - genetics
KW  - Cells, Cultured
KW  - Charcot-Marie-Tooth Disease
KW  - complications
KW  - Child
KW  - Copper
KW  - deficiency
KW  - DNA Mutational Analysis
KW  - Electron Transport Complex IV
KW  - Female
KW  - Fibroblasts
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mice
KW  - Mice, Inbred C57BL
KW  - Mice, Transgenic
KW  - Mitochondrial Proteins
KW  - Models, Molecular
KW  - Molecular Chaperones
KW  - Mutation
KW  - Oxygen Consumption
KW  - Sciatic Nerve
N1  - 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
UR  - https://doi.org/10.1093/brain/awx369
ER  -