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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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Bibliografske podrobnosti
izdano v:Genes (Basel)
Main Authors: Borna, Nurun Nahar, Kishita, Yoshihito, Sakai, Norio, Hamada, Yusuke, Kamagata, Koji, Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2020
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7697158/
https://ncbi.nlm.nih.gov/pubmed/33182419
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11111325
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