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Article

Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.

Molecular genetics and metabolism - 1 Mar 2020

Friederich Marisa W, Perez Francisco A, Knight Kaz M, Van Hove Roxanne A, Yang Samuel P, Saneto Russell P, Van Hove Johan L K

Abstract excerpt

Disorders of the white matter are genetically very heterogeneous including several genes involved in mitochondrial bioenergetics. Diagnosis of the underlying cause is aided by pattern recognition on neuroimaging and by next-generation sequencing. Recently, genetic changes in the complex I assembly factor NUBPL have been characterized by a consistent recognizable pattern of leukoencephalopathy affecting deep white...

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Identifiers

PMID: 31917109
DOI: 10.1016/j.ymgme.2019.12.013
PMCID: PMC8096346

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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