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Article

Dominant-negative effects of a novel mutation in the filamin myopathy.

Neurology - 10 Aug 2010

Kono S, Nishio T, Takahashi Y, Goto-Inoue N, Kinoshita M, Zaima N, Suzuki H, Fukutoku-Otsuji A, Setou M, Miyajima H

Abstract excerpt

BACKGROUND: Filamin myopathy is associated with mutations in the filamin C gene (FLNC) and is a myofibrillar myopathy characterized by focal myofibrillar destruction and cytoplasmic aggregates containing several Z-disk-related proteins. METHODS: This study investigated 6 Japanese patients with do...

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Source

Identifiers

PMID: 20697107
DOI: 10.1212/WNL.0b013e3181ec7fbd

Genes

FLNC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20697107-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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