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Article

NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy.

Clinical genetics - 1 May 2018

Ishiyama A, Muramatsu K, Uchino S, Sakai C, Matsushima Y, Makioka N, Ogata T, Suzuki E, Komaki H, Sasaki M, Mimaki M, Goto Y-I, Nishino I

Abstract excerpt

Genetic abnormalities in mitochondrial complex assembling factors are associated with leukoencephalopathy. We present a 1-year-old girl with consciousness disturbance after a respiratory infection. Brain MRI revealed leukoencephalopathy with bilaterally symmetrical hyperintensity in the substantia nigra, medial thalamic nuclei, and basal nuclei, as well as cavities in the cerebral white matter and corpus...

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Topics

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

Share to Genetic Predisposition to Disease

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Share to Leukoencephalopathies

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Source

Identifiers

PMID: 29344937
DOI: 10.1111/cge.13215

Genes

NDUFAF3
NDUFA9
NDUFB10
NDUFB11
NDUFS2
NDUFS3

Variants

Provenance

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

Related research

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NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy.PMID 29344937Read ↗

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Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.Semantic proximity Read ↗

The neuropathologic findings in a case of progressive cavitating leukoencephalopathy due to NDUFV1 pathogenic variants.Semantic proximity Read ↗

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.Semantic proximity Read ↗

NDUFS8-Related Leigh Syndrome Mimicking a Leukodystrophy.Semantic proximity Read ↗

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.Semantic proximity Read ↗

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