Mitochondrial myopathy and sideroblastic anemia

Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)