Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

doi:10.1016/j.ajhg.2011.04.021

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Article

Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

American journal of human genetics - 10 Jun 2011

Duff Rachael M, Tay Valerie, Hackman Peter, Ravenscroft Gianina, McLean Catriona, Kennedy Paul, Steinbach Alina, Schöffler Wiebke, van der Ven Peter F M, Fürst Dieter O, Song Jaeguen, Djinović-Carugo Kristina, Penttilä Sini, Raheem Olayinka, Reardon Katrina, Malandrini Alessandro, Gambelli Simona, Villanova Marcello, Nowak Kristen J, Williams David R, Landers John E, Brown Robert H, Udd Bjarne, Laing Nigel G

Abstract excerpt

Linkage analysis of the dominant distal myopathy we previously identified in a large Australian family demonstrated one significant linkage region located on chromosome 7 and encompassing 18.6 Mbp and 151 genes. The strongest candidate gene was FLNC because filamin C, the encoded protein, is muscle-specific and associated with myofibrillar myopathy. Sequencing of FLNC cDNA identified a c.752T>C (p.Met251Thr)...

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Identifiers

PMID: 21620354
DOI: 10.1016/j.ajhg.2011.04.021
PMCID: PMC3113346

Genes

FLNC
FLNA

Variants

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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