Article
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.
Nature genetics - 1 Apr 1996
Keightley J A, Hoffbuhr K C, Burton M D, Salas V M, Johnston W S, Penn A M, Buist N R, Kennaway N G
Abstract excerpt
We have identified a 15-bp microdeletion in a highly conserved region of the mitochondrially encoded gene for cytochrome c oxidase (COX) subunit III in a patient with severe isolated COX deficiency and recurrent myoglobinuria. The mutant mitochondrial DNA (mtDNA) comprised 92% of the mtDNA in mus...
Topics
- Adolescent
- Amino Acid Sequence
- Animals
- Base Sequence
- Cytochrome-c Oxidase Deficiency
- DNA
- DNA, Mitochondrial
- Electron Transport Complex IV
- Female
- Genotype
- Histocytochemistry
- Humans
- Molecular Sequence Data
- Muscle, Skeletal
- Myoglobinuria
- Phenotype
- Protein Conformation
- Recurrence