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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

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