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Article

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.

Molecular genetics and metabolism - 1 Nov 2016

Bianciardi Laura, Imperatore Valentina, Fernandez-Vizarra Erika, Lopomo Angela, Falabella Micol, Furini Simone, Galluzzi Paolo, Grosso Salvatore, Zeviani Massimo, Renieri Alessandra, Mari Francesca, Frullanti Elisa

Abstract excerpt

We report here the case of a young male who started to show verbal fluency disturbance, clumsiness and gait anomalies at the age of 3.5years and presented bilateral striatal necrosis. Clinically, the diagnosis was compatible with Leigh syndrome but the underlying molecular defect remained elusive even after exome analysis using autosomal/X-linked recessive or de novo models. Dosage of respiratory chain activity...

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Source

Identifiers

PMID: 27623250
DOI: 10.1016/j.ymgme.2016.09.001

Genes

NDUFAF6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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