X-linked recessive mitochondrial myopathy
MONDO:0100138Mondo
Findings
No curated finding names X-linked recessive mitochondrial myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0100138), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: X-linked recessive mitochondrial myopathy
- Also called
- X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features