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Mitochondrial myopathy and sideroblastic anemia

Disease definition

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.

ORPHA:2598

Classification level: Disorder
  • Synonym(s):
    • MLASA
    • MSA
    • Myopathy, lactic acidosis and sideroblastic anemia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Childhood, Infancy
  • ICD-10: G71.3
  • OMIM: 500011  600462  613561
  • UMLS: C1838103
  • MeSH: C536101
  • GARD: 3885
  • MedDRA: -
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