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Article

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

Brain & development - 1 Nov 2012

Tanigawa Junpei, Kaneko Kaori, Honda Masakazu, Harashima Hiroko, Murayama Kei, Wada Takahito, Takano Kyoko, Iai Mizue, Yamashita Sumimasa, Shimbo Hiroko, Aida Noriko, Ohtake Akira, Osaka Hitoshi

Abstract excerpt

We report two patients with Leigh syndrome that showed a combination of facial dysmorphism and MRI imaging indicating an SURF1 deficiency, which was confirmed by sequence analysis. Case 1 is a 3-year-old girl with failure to thrive and developmental delay. She presented with tachypnea at rest and displayed facial dysmorphism including frontal bossing, lateral displacement of inner canthi, esotropia, maxillary...

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Source

Identifiers

PMID: 22410471
DOI: 10.1016/j.braindev.2012.02.007

Genes

SURF1

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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