In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

doi:10.1038/ejhg.2008.226

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Article

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

European journal of human genetics : EJHG - 1 May 2009

Shatunov Alexey, Olivé Montse, Odgerel Zagaa, Stadelmann-Nessler Christine, Irlbacher Kerstin, van Landeghem Frank, Bayarsaikhan Munkhuu, Lee Hee-Suk, Goudeau Bertrand, Chinnery Patrick F, Straub Volker, Hilton-Jones David, Damian Maxwell S, Kaminska Anna, Vicart Patrick, Bushby Kate, Dalakas Marinos C, Sambuughin Nyamkhishig, Ferrer Isidro, Goebel Hans H, Goldfarb Lev G

Abstract excerpt

Myofibrillar myopathies (MFMs) are an expanding and increasingly recognized group of neuromuscular disorders caused by mutations in DES, CRYAB, MYOT, and ZASP. The latest gene to be associated with MFM was FLNC; a p.W2710X mutation in the 24th immunoglobulin-like repeat of filamin C was shown to be the cause of a distinct type of MFM in several German families. We studied an International cohort of 46 patients...

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Identifiers

PMID: 19050726
DOI: 10.1038/ejhg.2008.226
PMCID: PMC2672961

Genes

CRYAB
DES
FLNC
MYOT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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