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References OMIM Gene GeneReviews HGMD HGNC
last update : 30-04-2013
Symbol AHMU
Location 1q44
Name ataxia and muscle hypotonia
Corresponding gene COX20
Main clinical features
  • ataxia and muscle hypotonia with complex IV deficiency
  • cerebellar ataxia with intention tremor and pyramidal signs, delayed speech development
  • mild elevation of blood and CSF lactate concentrations
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
  • FAM36A defect hampers the early step of complex IV assembly at the incorporation of the COX2 subunit (PMID: 23125284))