mitochondrial complex IV deficiency nuclear type 8

Summary
Synonym
  • MC4DN8
Definition
A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3.
Super Class
COX deficiency, benign infantile mitochondrial myopathy autosomal recessive disease
Disease Ontology
DOID:0070495
Mondo Disease Ontology
UMLS
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
51204 TACO1 translational activator of cytochrome c oxidase I

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024