Article
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
Journal of inherited metabolic disease - 1 Jul 2020
Hikmat Omar, Naess Karin, Engvall Martin, Klingenberg Claus, Rasmussen Magnhild, Tallaksen Chantal Me, Brodtkorb Eylert, Ostergaard Elsebet, de Coo I F M, Pias-Peleteiro Leticia, Isohanni Pirjo, Uusimaa Johanna, Darin Niklas, Rahman Shamima, Bindoff Laurence A
Abstract excerpt
BACKGROUND: Variants in POLG are one of the most common causes of inherited mitochondrial disease. Phenotypic classification of POLG disease has evolved haphazardly making it complicated and difficult to implement in everyday clinical practise. The aim of our study was to simplify the classification and facilitate better clinical recognition. METHODS: A multinational, retrospective study using data from 155...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Aged, 80 and over
- Child
- Child, Preschool
- DNA Polymerase gamma
- Europe
- Female