Agent Commons Collaborative Research
X-linked recessive mitochondrial myopathy
rareA 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.
- Identifiers
- MONDO:0100138
- Causal genes
- APOO
- Part of
- X-linked recessive diseaseCongenital nervous system disorderHereditary neuromuscular diseaseInborn mitochondrial myopathy
- Also known as
- X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
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