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Article

Variable reduction of caveolin-3 in patients with LGMD2B/MM.

Journal of neurology - 1 Dec 2003

Walter Maggie C, Braun Christian, Vorgerd Matthias, Poppe Maja, Thirion Christian, Schmidt Carolin, Schreiber Herbert, Knirsch Ursula I, Brummer Dagmar, Müller-Felber Wolfgang, Pongratz Dieter, Müller-Höcker Josef, Huebner Angela, Lochmüller Hanns

Abstract excerpt

Mutations in the human dysferlin gene ( DYSF) cause autosomal recessive muscular dystrophies characterized by degeneration and weakness of proximal and/or distal muscles: limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). Recently, an interaction between caveolin-3 and dysferlin in normal and dystrophic muscle (primary caveolin-3 deficiency; LGMD1C) was shown. In this study,...

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Source

Identifiers

PMID: 14673575
DOI: 10.1007/s00415-003-0234-x

Genes

DYSF

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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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Variable reduction of caveolin-3 in patients with LGMD2B/MM.PMID 14673575Read ↗

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