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Article

Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL.

Genes - 9 Nov 2020

Borna Nurun Nahar, Kishita Yoshihito, Sakai Norio, Hamada Yusuke, Kamagata Koji, Kohda Masakazu, Ohtake Akira, Murayama Kei, Okazaki Yasushi

Abstract excerpt

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 dysfunction. We describe a case with infantile-onset neurodegeneration, psychomotor retardation, irritability,...

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Identifiers

PMID: 33182419
DOI: 10.3390/genes11111325
PMCID: PMC7697158

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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