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Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene

Leucoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a very rare autosomal recessive, slowly progressive neurological disorder characterised by distinctive clinical findings including cerebellar, pyramidal and dorsal column dysfunction. This is caused by a m...

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Dades bibliogràfiques
Publicat a:BMJ Case Rep
Autors principals: Yelam, Anudeep, Nagarajan, Elanagan, Chuquilin, Miguel, Govindarajan, Raghav
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6340551/
https://ncbi.nlm.nih.gov/pubmed/30635318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-227755
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