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Human Disease

myopathy, lactic acidosis, and sideroblastic anemia

Term ID
DOID:0080099
Synonyms
Definition
A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253070/
References
  • ORDO:2598
Ontology
Human Disease   ( DOID:0080099 )
Relationships
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Genes Involved
Zebrafish Models