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

is a type of: mitochondrial myopathy

mitochondrial myopathy Show first 5 Terms
has subtype: myopathy, lactic acidosis, and sideroblastic anemia 1 myopathy, lactic acidosis, and sideroblastic anemia 2 myopathy, lactic acidosis, and sideroblastic anemia 3

myopathy, lactic acidosis, and sideroblastic anemia 1 myopathy, lactic acidosis, and sideroblastic anemia 2 myopathy, lactic acidosis, and sideroblastic anemia 3 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models