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Article

SEPN1: associated with congenital fiber-type disproportion and insulin resistance.

Annals of neurology - 1 Mar 2006

Clarke Nigel F, Kidson Warren, Quijano-Roy Susana, Estournet Brigitte, Ferreiro Ana, Guicheney Pascale, Manson James I, Kornberg Andrew J, Shield Lloyd K, North Kathryn N

Abstract excerpt

OBJECTIVE: Our first objective was to determine whether SEPN1 gene mutations are a cause of congenital fiber-type disproportion (CFTD), a rare form of congenital myopathy in which relative hypotrophy of type 1 (slow twitch) muscle fibers is the principal abnormality on histology. Second, we investigated an association between SEPN1-related myopathy and insulin resistance. METHODS: We sequenced SEPN1 in five...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16365872
DOI: 10.1002/ana.20761

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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