X-linked recessive mitochondrial myopathy
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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0009637
inborn mitochondrial myopathy
is_a
MONDO:0020605
X-linked recessive disease
is_a
MONDO:0100546
hereditary neuromuscular disease
is_a
X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
exact
SPCC1442.05c