Disease association ontology term - MONDO:0100138 - X-linked recessive mitochondrial myopathy
Term summary
- ID
- MONDO:0100138
- Name
- X-linked recessive mitochondrial myopathy
- Ontology or CV name
- Disease association
- Definition
- A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features.
