Condition: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)


rs113994094 in POLG gene and MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) PMID 12825077 2003 Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

PMID 19307547 2009 Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.

PMID 17436221 2007 Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment.

PMID 19364868 2009 R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity.

PMID 20176107 2010 Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.