Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

Disorders of mitochondrial function are a collectively common group of genetic diseases in which deficits in core mitochondrial translation machinery, including aminoacyl tRNA synthetases, are key players. Biallelic variants in the CARS2 gene (NM_024537.4), which encodes the mitochondrial aminoacyl‐...

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Detalles Bibliográficos
Autores principales: Poquérusse, Jessie, Nolan, Melinda, Thorburn, David R., Van Hove, Johan L. K., Friederich, Marisa W., Love, Donald R., Taylor, Juliet, Powell, Christopher A., Minczuk, Michal, Snell, Russell G., Lehnert, Klaus, Glamuzina, Emma, Jacobsen, Jessie C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10159863/
https://www.ncbi.nlm.nih.gov/pubmed/37151360
http://dx.doi.org/10.1002/jmd2.12360

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