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Article

Cystic Leucoencephalopathy in NDUFV1 Mutation.

Indian journal of pediatrics - 1 Dec 2018

Wadhwa Yamini, Rohilla Seema, Kaushik Jaya Shankar

Abstract excerpt

Complex I deficiency is one of the most common mitochondrial respiratory chain defect. This deficiency of oxidative phosphorylation results from mutation in nuclear and mitochondrial DNA. Mutations in NDUFV1 (Flavin binding subunit of Respiratory complex 1) results in neurological manifestations including Leigh syndrome and leucoencephalopathy. The authors report a one-year-old boy with history of regression of...

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Source

Identifiers

PMID: 29948731
DOI: 10.1007/s12098-018-2721-1

Genes

NDUFV1

Variants

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Related research

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Cystic Leucoencephalopathy in NDUFV1 Mutation.PMID 29948731Read ↗

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Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.Semantic proximity Read ↗

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

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.Semantic proximity Read ↗

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When the Expected Scenario Did Not Occur: A Novel NDUFA12 Mutation Resembling Neuromyelitis Optica Spectrum Disorder.Semantic proximity Read ↗

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