Publications by authors named "Charlotte V Knowles"
Purpose: Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families harboring PPA2 variants.
Methods: Synthesis of clinical and molecular data concerning 34 individuals harboring five previously reported PPA2 variants and 12 novel variants, 11 of which were functionally characterized.
Article Synopsis
- * In a study with 93 CFS patients, researchers checked their mitochondrial DNA for known harmful mutations but didn’t find any, suggesting that these mutations are not common in CFS patients.
- * The study concludes that CFS should not be grouped with mitochondrial diseases, but more research is needed to truly understand what causes CFS.