LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations

OBJECTIVE: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is regarded a relatively mild leukodystrophy, diagnosed by characteristic long tract abnormalities on MRI and biallelic variants in DARS2, encoding mitochondrial aspartyl-tRNA synthetase (mtAspRS)....

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Опубликовано в: :Neurol Genet
Главные авторы: Stellingwerff, Menno D., Figuccia, Sonia, Bellacchio, Emanuele, Alvarez, Karin, Castiglioni, Claudia, Topaloglu, Pinar, Stutterd, Chloe A., Erasmus, Corrie E., Sanchez‐Valle, Amarilis, Lebon, Sebastien, Hughes, Sarah, Schmitt-Mechelke, Thomas, Vasco, Gessica, Chow, Gabriel, Rahikkala, Elisa, Dallabona, Cristina, Okuma, Cecilia, Aiello, Chiara, Goffrini, Paola, Abbink, Truus E.M., Bertini, Enrico S., Van der Knaap, Marjo S.
Формат: Artigo
Язык:Inglês
Опубликовано: Wolters Kluwer 2021
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC8105885/
https://ncbi.nlm.nih.gov/pubmed/33977142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000559
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