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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))