Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL

Leigh syndrome (LS) is most frequently characterized by the presence of focal, bilateral, and symmetric brain lesions Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare condition, characterized by progressive pyramidal, cerebellar, and dorsal column...

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Detalles Bibliográficos
Autores principales: Borna, Nurun Nahar, Kishita, Yoshihito, Sakai, Norio, Hamada, Yusuke, Kamagata, Koji, Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7697158/
https://www.ncbi.nlm.nih.gov/pubmed/33182419
http://dx.doi.org/10.3390/genes11111325

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7697158/
https://www.ncbi.nlm.nih.gov/pubmed/33182419
http://dx.doi.org/10.3390/genes11111325

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