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Article

Proteomic investigation of the molecular pathophysiology of dysferlinopathy.

Proteomics - 1 Jan 2006

De Palma Sara, Morandi Lucia, Mariani Elena, Begum Shajna, Cerretelli Paolo, Wait Robin, Gelfi Cecilia

Abstract excerpt

Mutations in dysferlin gene cause several types of muscular dystrophy in humans, including the limb-girdle muscular dystrophy type 2B and the distal muscular dystrophy of Miyoshi. The dysferlin gene product is a membrane-associated protein belonging to the ferlins family of proteins. The function...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16302276
DOI: 10.1002/pmic.200500098

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16302276-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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