Progressive Mitochondrial Encephalopathy Due to the Novel Compound Heterozygous Variants c.182C>T and c.446A>AG in NARS2: A Case Report

Progressive mitochondrial encephalopathy manifesting as developmental delay, regression, epilepsy, myoclonus, dystonia, and spasticity due to a novel compound heterozygous variant in NARS2 has not been reported. The patient is a 3.5-year-old female with normal psychomotor development until she exper...

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Detalles Bibliográficos
Autores principales: Finsterer, Josef, Mehri, Sounira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515475/
https://www.ncbi.nlm.nih.gov/pubmed/37746452
http://dx.doi.org/10.7759/cureus.43969

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515475/
https://www.ncbi.nlm.nih.gov/pubmed/37746452
http://dx.doi.org/10.7759/cureus.43969

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