Adult, isolated respiratory chain complex IV deficiency with minimal manifestations.

doi:10.5114/fn.2015.52412

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Article

Adult, isolated respiratory chain complex IV deficiency with minimal manifestations.

Folia neuropathologica - 1 Jan 2015

Finsterer Josef, Kovacs Gabor G, Rauschka Helmut, Ahting Uwe

Abstract excerpt

OBJECTIVES: Isolated complex IV (cytochrome c oxidase) deficiency is one of the most frequent respiratory chain defects in mitochondrial disorders (MIDs) and usually occurs together with severe pediatric or rarely adult multisystem disease. Here we report an adult with isolated complex IV deficiency with unusually mild clinical manifestations. CASE REPORT: A 50-year-old man had developed generalized muscle aches...

Topics

Cytochrome-c Oxidase Deficiency
Humans
Male
Middle Aged
Phenotype

Source

Open in PubMed

Identifiers

PMID: 26216118
DOI: 10.5114/fn.2015.52412

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