Leigh Syndrome Due to <i>NDUFV1</i> Mutations Initially Presenting as LBSL

Leigh Syndrome Due to <i>NDUFV1</i> 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...

Full description

Bibliographic Details
Main Authors: Nurun Nahar Borna, Yoshihito Kishita, Norio Sakai, Yusuke Hamada, Koji Kamagata, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:Genes
Subjects:
leukodystrophy
leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Leigh syndrome
<i>NDUFV1</i>
OxPhos deficiency
Online Access:https://www.mdpi.com/2073-4425/11/11/1325

Internet

https://www.mdpi.com/2073-4425/11/11/1325

Similar Items