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Article

Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease.

Neuropediatrics - 1 Jun 2022

Rubino Alfonso, Bruno Giorgia, Mazio Federica, de Leva Maria Fulvia, Ruggiero Lucia, Santorelli Filippo Maria, Varone Antonio

Abstract excerpt

Variants in SURF1, encoding an assembly factor of mitochondrial respiratory chain complex IV, cause Leigh syndrome (LS) and Charcot-Marie-Tooth type 4K in children and young adolescents. Magnetic resonance imaging (MRI) appearance of enlarged nerve roots with postcontrastographic enhancement is a distinctive feature of hypertrophic neuropathy caused by onion-bulb formation and it has rarely been described in...

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Source

Identifiers

PMID: 34852375
DOI: 10.1055/s-0041-1739135

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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Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease.PMID 34852375Read ↗

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An Atypical <em>SURF1</em> -Associated Leigh Syndrome Phenotype Presenting with Ocular Dyspraxia and Nocturnal DisturbancesSemantic proximity Read ↗

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