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last update : 22-09-2015
Symbol MLASA2
Location 12p11.21
Name myopathy, lactic acidosis, and sideroblastic anemia 2
Other name(s) mitochondrial myopathy and sideroblastic anemia 2
Corresponding gene YARS2
Main clinical features
  • oxidative phosphorylation disorder with myopathy, sideroblastic anemia, lactic acidosis, mental retardation, microcephaly, high palate, high philtrum, distichiasis, and micrognathia
  • muscle biopsy demonstrated low activity of complex I, III, and IV of the respiratory chain; electron microscopy revealed paracrystalline inclusions in most mitochondria
  • Genetic determination autosomal recessive
    Function/system disorder multisystem/generalized
    Type disease