Ontology highlight
ABSTRACT:
SUBMITTER: Borsche M
PROVIDER: S-EPMC10951043 | biostudies-literature | 2024 Apr
REPOSITORIES: biostudies-literature
Borsche Max M Dulovic-Mahlow Marija M Baumann Hauke H Tunc Sinem S Lüth Theresa T Schaake Susen S Özcakir Selin S Westenberger Ana A Münchau Alexander A Knappe Evelyn E Trinh Joanne J Brüggemann Norbert N Lohmann Katja K
Cerebellum (London, England) 20230422 2
Different pathogenic variants in the DNA polymerase-gamma2 (POLG2) gene cause a rare, clinically heterogeneous mitochondrial disease. We detected a novel POLG2 variant (c.1270 T > C, p.Ser424Pro) in a family with adult-onset cerebellar ataxia and progressive ophthalmoplegia. We demonstrated altered mitochondrial integrity in patients' fibroblast cultures but no changes of the mitochondrial DNA were found when compared to controls. We consider this novel, segregating POLG2 variant as disease-caus ...[more]