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References OMIM Gene GeneReviews HGMD HGNC
last update : 14-10-2013
Symbol MTDPS13
Location 6q16.2
Name mitochondrial DNA depletion syndrome13
Corresponding gene FBXL4
Main clinical features
  • early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay
  • severe encephalomyopathy consistently associated with progressive cerebral atrophy and variable involvement of the white matter, deep gray nuclei, and brainstem structures (PMID: 23993194))
  • cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    mental retardation
    Type disease