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References OMIM Gene GeneReviews HGMD HGNC
last update : 11/10/06
Symbol COXPD2
Location 12q13-q14
Name combined oxidative phosphorylation deficiency-2
Corresponding gene TSFM
Main clinical features muscular hypotonia, sucking weakness, and severe lactic acidosis, followed by rhabdomyolysis with elevated creatine kinase values, generalized convulsions began on the third day of life.and death of progressive encephalomyopathy and respiratory failure
Genetic determination autosomal recessive
Function/system disorder multisystem/generalized
Type disease