POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Mitochondrial abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.020 GeneticVariation disease BEFREE Because of suspected mitochondrial depletion disorder, testing was performed for mitochondrial abnormalities including analysis of the POLG gene, which revealed two pathogenic mutations, c.1399G>A (p.A467T) and c.3285C>G (p.S1095R). 25286830 2014
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.020 GeneticVariation disease BEFREE A homozygous POLG1 mutation might explain PEO with mitochondrial abnormalities in skeletal muscle in our propositus, and it might have aggravated his axonal and hypomyelinating sensory-motor neuropathy. 16715201 2006