EPISODE · Jul 28, 2023 · 4 MIN
Shortcast: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease
from JIMD Podcasts · host Journal of Inherited Metabolic Disease
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
Embed this episode
NOW PLAYING
Shortcast: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease
No transcript for this episode yet
Similar Episodes
No similar episodes found.
Similar Podcasts
No similar podcasts found.