Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

BACKGROUND: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia and involvement of the dorsal column. The disease is caused by mutations...

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Detalles Bibliográficos
Autores principales: Yahia, Ashraf, Elsayed, Liena, Babai, Arwa, Salih, Mustafa A., El-Sadig, Sarah Misbah, Amin, Mutaz, Koko, Mahmoud, Abubakr, Rayan, Idris, Razaz, Taha, Shaimaa Omer M.A., Elmalik, Salah A., Brice, Alexis, Ahmed, Ammar Eltahir, Stevanin, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198356/
https://www.ncbi.nlm.nih.gov/pubmed/30352563
http://dx.doi.org/10.1186/s12883-018-1180-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198356/
https://www.ncbi.nlm.nih.gov/pubmed/30352563
http://dx.doi.org/10.1186/s12883-018-1180-7

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