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Article

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

Neurology - 22 Oct 2013

Echaniz-Laguna Andoni, Ghezzi Daniele, Chassagne Maïté, Mayençon Martine, Padet Sylvie, Melchionda Laura, Rouvet Isabelle, Lannes Béatrice, Bozon Dominique, Latour Philippe, Zeviani Massimo, Mousson de Camaret Bénédicte

Abstract excerpt

OBJECTIVE: To investigate whether mutations in the SURF1 gene are a cause of Charcot-Marie-Tooth (CMT) disease. METHODS: We describe 2 patients from a consanguineous family with demyelinating autosomal recessive CMT disease (CMT4) associated with the homozygous splice site mutation c.107-2A>G in the SURF1 gene, encoding an assembly factor of the mitochondrial respiratory chain complex IV. This observation led us...

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Identifiers

PMID: 24027061
DOI: 10.1212/WNL.0b013e3182a4a518
PMCID: PMC3888171

Genes

SURF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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