))
Shortcast: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease
Manage episode 372472181 series 3001064
Content provided by JIMD Podcasts and Journal of Inherited Metabolic Disease. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by JIMD Podcasts and Journal of Inherited Metabolic Disease or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://player.fm/legal.
Dr Emma Glamuzina of the National Metabolic Service in New Zealand, describes a neonatal presentation of CARS2- related mitochondrial disease and the diagnostic challenges this brought in a pre-exome/genome era. Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease Jessie Poquérusse, et al https://doi.org/10.1002/jmd2.12360
…
continue reading
173 episodes
Share
