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Article

Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G-->C mutation.

Clinical imaging - 1 Jan 2000

Xie Sheng, Xiao Jiang Xi, Qi Zhao Yue, Yang Yan Ling, Jiang Xue Xiang

Abstract excerpt

OBJECTIVE: To identify the magnetic resonance (MR) features of a group of pediatric patients with Leigh syndrome (LS) caused by SURF1 gene 604G-->C mutation. MATERIALS AND METHODS: Eight cases with definite diagnosis of SURF1 gene 604G-->C mutation in our hospital were reviewed. Most cases presented typical symptoms in their infancy or childhood, with psychomotor regression, hypotonia, or eye movement...

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Source

Identifiers

PMID: 19135921
DOI: 10.1016/j.clinimag.2008.08.001

Genes

SURF1

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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