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Article

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.

Journal of human genetics - 1 Aug 2010

Santos Rosário, Oliveira Jorge, Vieira Emília, Coelho Teresa, Carneiro António Leite, Evangelista Teresinha, Dias Cristina, Fortuna Ana, Geraldo Argemiro, Negrão Luís, Guimarães António, Bronze-da-Rocha Elsa

Abstract excerpt

The allelic muscle disorders known as limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy and distal anterior compartment myopathy result from defects in dysferlin-a sarcolemma-associated protein involved in membrane repair. Mutation screening in the dysferlin gene (DYSF) enabled the identification of seven Portuguese patients presenting the variant c.5492G>A, which was observed to promote skipping...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20535123
DOI: 10.1038/jhg.2010.60

Genes

DYSF

Variants

Provenance

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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