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Article

Novel NDUFV1 variant in progressive cavitating leukodystrophy with microcephaly: a case report.

BMC pediatrics - 9 Apr 2026

Xiaowei Lu, Hong Wang, Hong Li, Bo Wu, Xiaoli Yu

Abstract excerpt

BACKGROUND: Progressive cavitating leukoencephalopathy (PCL) is a rare mitochondrial neurodegenerative disorder primarily caused by mitochondrial respiratory chain complex Ⅰ deficiency, with NDUFV1 identified as a major pathogenic gene. Typical phenotypes associated with NDUFV1-related PCL include motor regression, dystonia, cognitive impairment, and limb weakness, while microcephaly is extremely rare. The...

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Share to Electron Transport Complex I
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41952138
DOI: 10.1186/s12887-026-06858-8
PMCID: PMC13191874

Genes

NDUFV1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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