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Article

Filamin C-related myopathies: pathology and mechanisms.

Acta neuropathologica - 1 Jan 2013

Fürst Dieter O, Goldfarb Lev G, Kley Rudolf A, Vorgerd Matthias, Olivé Montse, van der Ven Peter F M

Abstract excerpt

The term filaminopathy was introduced after a truncating mutation in the dimerization domain of filamin C (FLNc) was shown to be responsible for a devastating muscle disease. Subsequently, the same mutation was found in patients from diverse ethnical origins, indicating that this specific alteration is a mutational hot spot. Patients initially present with proximal muscle weakness, while distal and respiratory...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23109048
DOI: 10.1007/s00401-012-1054-9
PMCID: PMC5127197

Genes

FLNC

Provenance

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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