X-linked recessive mitochondrial myopathy

MONDO:0100138

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.

Also known as: X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

18 clinical trials for this condition and its sub-types, 0 tagged with X-linked recessive mitochondrial myopathy itself.

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↑ Hereditary neuromuscular disease (935) ↑ Congenital nervous system disorder (287) ↑ Inborn mitochondrial myopathy (45) ↑ X-linked recessive disease (10)

Including sub-types (18) Tagged with X-linked recessive mitochondrial myopathy (0)

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