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GENATLAS PHENOTYPE
last update : 24-03-2013
Symbol MLASA1
Location 12q24.33
Name myopathy, lactic acidosis, and sideroblastic anemia 1
Other name(s) mitochondrial myopathy and sideroblastic anemia
Corresponding gene PUS1
Other symbol(s) MLASA
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 complexes 1 and 4 of the respiratory chain; electron microscopy revealed paracrystalline inclusions in most mitochondria
    • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    metabolism/aminoacids
    congenital malformation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function associated with the loss of tRNA pseudouridylation
    Remark(s)