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.
Comprehensive, easy-to-understand information about this condition
Checking for content...
No external resources available.
polymicrogyria
MONDO:0000087
congenital myasthenic syndrome with tubular aggregates
MONDO:0000182
prenatal-onset spinal muscular atrophy with congenital bone fractures
MONDO:0000209
anencephaly
MONDO:0000819
cerebral cavernous malformation
MONDO:0000820
myopathy, lactic acidosis, and sideroblastic anemia
MONDO:0000863