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Article

Hypertrichosis in patients with SURF1 mutations.

American journal of medical genetics. Part A - 1 Nov 2005

Ostergaard Elsebet, Bradinova Irena, Ravn Susanne Holst, Hansen Flemming Juul, Simeonov Emil, Christensen Ernst, Wibrand Flemming, Schwartz Marianne

Abstract excerpt

We present three patients with SURF1 mutations. In addition to Leigh syndrome all patients had hypertrichosis, a clinical sign that is not usually associated with Leigh syndrome. The hypertrichosis was not congenital and it was mainly distributed on the extremities and forehead. In addition to our three patients, we have identified five patients in the literature with hypertrichosis and Leigh syndrome due to...

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Source

Identifiers

PMID: 16222681
DOI: 10.1002/ajmg.a.30972

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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Hypertrichosis in presymptomatic mitochondrial disease.Semantic proximity Read ↗

SURF1-associated Leigh syndrome: a case series and novel mutations.Semantic proximity Read ↗

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High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.Semantic proximity Read ↗

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.Semantic proximity Read ↗

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