TY  - GEN
AU  - Debray,François-Guillaume
AU  - Seneca,Sara
AU  - Gonce,Michel
AU  - Vancampenhaut,Kim
AU  - Bianchi,Elettra
AU  - Boemer,François
AU  - Weekers,Laurent
AU  - Smet,Joél
AU  - Van Coster,Rudy
TI  - Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene
SN  - 1872-8278
PY  - 2015///0401
KW  - Adolescent
KW  - Biopsy
KW  - Codon, Nonsense
KW  - Cytochrome-c Oxidase Deficiency
KW  - DNA, Mitochondrial
KW  - chemistry
KW  - Electron Transport Complex IV
KW  - genetics
KW  - Female
KW  - Frameshift Mutation
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Mitochondrial Encephalomyopathies
KW  - diagnosis
KW  - Muscles
KW  - pathology
KW  - Mutation
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.mito.2014.06.003
ER  -