Shortcast: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease
Release Date:
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
Shortcast: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease