Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

MONDO:0011451

Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.

Also known as: SCO2 fatal infantile encephalocardiomyopathy, cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1, cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, fatal infantile encephalocardiomyopathy caused by mutation in SCO2, mitochondrial complex IV deficiency, nuclear type 2, CEMCOX1, cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy

25 clinical trials for this condition and its sub-types, 0 tagged with Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 itself.

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↑ Fatal infantile encephalocardiomyopathy (0)

Including sub-types (25) Tagged with Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (0)

Trials to join now! 15 Not yet recruiting 1 Not yet finished but already full! 6 Completed 2 Terminated 1

New DNA test could end years of uncertainty for mitochondrial disease patients

Diagnosis Not yet recruiting

This pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…

Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis

Last updated Jun 27, 2026 12:04 UTC

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Where it sits in the disease tree

New DNA test could end years of uncertainty for mitochondrial disease patients