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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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Detaylı Bibliyografya
Yayımlandı:Genes (Basel)
Asıl Yazarlar: Borna, Nurun Nahar, Kishita, Yoshihito, Sakai, Norio, Hamada, Yusuke, Kamagata, Koji, Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI 2020
Konular:
Online Erişim: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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