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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-05-2010
Symbol COXPD6
Location Xq26.1
Name combined oxidative phosphorylation deficiency 6
Other name(s) encephalomyopathy, mitochondrial, X-linked
Corresponding gene AIFM1
Other symbol(s) AIFM1D
Main clinical features
  • early-onset neurodegenerative disorder associated with dysfunction of the mitochondrial respiratory chain
  • psychomotor delay, decreased spontaneous movement of the lower right limb and continuous involuntary movements of the hands and feet, fasciculations of the tongue, hypotonia, and areflexia
  • brain MRI showed abnormal signals in the basal ganglia
  • EMG and nerve conduction studies showed an axonal sensory and motor neuropathy
  • muscle biopsy showed decreased mtDNA copy number (20p100 of control), and cultured fibroblasts showed reduced mitochondrial complexes I, II, III, and IV
  • Genetic determination sex linked
    Function/system disorder mental retardation
    Type disease