Abstract Background The c.2447G>A (p.R722H) mutation in the gene POLG1 of the catalytic subunit of human mitochondrial polymerase gamma has been previously found in a few occasions but its pathogenicity has remained uncertain. We set out to ascertain its contribution to neuromuscular disease. Methods Probands from two families with probable mitochondrial disease were examined clinically, muscle and buccal epithelial DNA were analyzed for mtDNA deletions, and the POLG1, POLG2, ANT1 and Twinkle genes were sequenced. Results An adult proband presented with progressive external ophthalmoplegia, sensorineural hearing impairment, diabetes mellitus, dysphagia, a limb myopathy and dementia. Brain MRI showed central and cortical atrophy, and 18F-deo...
The polymerase DNA gamma (POLG1) gene has major role in the biogenesis of mitochondrial DNA (mtDNA)....
POLG gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA (mt...
The maintenance of mitochondrial DNA (mtDNA) is critically dependent upon polymerase-g (pol-g), enco...
Mutations in the gene coding for the catalytic subunit of the mitochondrial DNA (mtDNA) polymerase &...
Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondri...
Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondri...
Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondri...
Background: Mutations in the gene encoding the DNA-polymerase gamma (POLG), the enzyme that replicat...
Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical prese...
Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical prese...
DNA polymerase γ (pol γ) is required to maintain the genetic integrity of the 16,569-bp human mitoch...
Mutations in the gene coding for the catalytic subunit of the mitochondrial DNA (mtDNA) polymerase γ...
POLG gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA (mt...
POLG gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA (mt...
POLG gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA (mt...
The polymerase DNA gamma (POLG1) gene has major role in the biogenesis of mitochondrial DNA (mtDNA)....
POLG gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA (mt...
The maintenance of mitochondrial DNA (mtDNA) is critically dependent upon polymerase-g (pol-g), enco...
Mutations in the gene coding for the catalytic subunit of the mitochondrial DNA (mtDNA) polymerase &...
Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondri...
Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondri...
Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondri...
Background: Mutations in the gene encoding the DNA-polymerase gamma (POLG), the enzyme that replicat...
Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical prese...
Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical prese...
DNA polymerase γ (pol γ) is required to maintain the genetic integrity of the 16,569-bp human mitoch...
Mutations in the gene coding for the catalytic subunit of the mitochondrial DNA (mtDNA) polymerase γ...
POLG gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA (mt...
POLG gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA (mt...
POLG gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA (mt...
The polymerase DNA gamma (POLG1) gene has major role in the biogenesis of mitochondrial DNA (mtDNA)....
POLG gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA (mt...
The maintenance of mitochondrial DNA (mtDNA) is critically dependent upon polymerase-g (pol-g), enco...