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GENATLAS PHENOTYPE
last update : 28-11-2012
Symbol COXPD13
Location 2p16.1
Name combined oxidative phosphorylation deficiency-13
Corresponding gene PNPT1
Main clinical features
  • early onset severe encephalomyopathy, choreoathetotic movements, and combined mitochondrial respiratory chain deficiency
  • motor regression with truncal hypotonia and choreoathetotic movements
  • increased plasma and cerebrospinal fluid (CSF) lactate, and brain MRI showed hyperintensities in the bilateral putamen and caudate nuclei
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Remark(s)
  • significant decrease in 5S rRNA and RMRP import into mitochondria in fibroblasts of affected subject (PMID: 23084291))