Expanding the electro-clinical phenotype of CARS2associated neuroregression

Biallelic variants in CARS2 (Cysteinyl-tRNA synthetase 2; MIM*612800), are known to cause combined oxidative phosphorylation deficiency 27 (MIM#616672), characterized by severe myoclonic epilepsy, neuroregression and complex movement disorders. To date, six individuals from five families have been r...

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Detalles Bibliográficos
Autores principales: Kapoor, Dipti, Majethia, Purvi, Anand, Aakanksha, Shukla, Anju, Sharma, Suvasini
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8524140/
https://www.ncbi.nlm.nih.gov/pubmed/34704010
http://dx.doi.org/10.1016/j.ebr.2021.100485

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8524140/
https://www.ncbi.nlm.nih.gov/pubmed/34704010
http://dx.doi.org/10.1016/j.ebr.2021.100485

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