Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.

Debray, François-Guillaume

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. [electronic resource] - Mitochondrion Jul 2014 - 101-5 p. digital

Publication Type: Case Reports; Journal Article

1872-8278

10.1016/j.mito.2014.06.003 doi


Adolescent
Biopsy
Codon, Nonsense
Cytochrome-c Oxidase Deficiency
DNA, Mitochondrial--chemistry
Electron Transport Complex IV--genetics
Female
Frameshift Mutation
High-Throughput Nucleotide Sequencing
Humans
Mitochondrial Encephalomyopathies--diagnosis
Muscles--pathology
Mutation