A New DARS2 Mutation Discovered in an Adult Patient

We report a case of an adult patient suffering from leukoencephalopathy with brainstem and spinal cord involvement and elevated white matter lactate (LBSL) caused by a DARS2 polymorphism. DARS2 mutation was identified by combining MRI and genetic analysis. Our patient was affected by compound hetero...

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Detalles Bibliográficos
Autores principales: N'Gbo N'Gbo Ikazabo, Rosy, Mostosi, Christian, Jissendi, Patrice, Labaisse, Marie-Anne, Vandernoot, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2020
Materias:
Single Case − General Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7154256/
https://www.ncbi.nlm.nih.gov/pubmed/32308605
http://dx.doi.org/10.1159/000506190

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7154256/
https://www.ncbi.nlm.nih.gov/pubmed/32308605
http://dx.doi.org/10.1159/000506190

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