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Article

FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency.

Human molecular genetics - 1 Jun 2016

Ruparelia Avnika A, Oorschot Viola, Ramm Georg, Bryson-Richardson Robert J

Abstract excerpt

Myofibrillar myopathy is a progressive muscle disease characterized by the disintegration of muscle fibers and formation of protein aggregates. Causative mutations have been identified in nine genes encoding Z-disk proteins, including the actin binding protein filamin C (FLNC). To investigate the mechanism of disease in FLNCW2710X myopathy we overexpressed fluorescently tagged FLNC or FLNCW2710X in zebrafish....

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Share to Autophagy
Share to Filamins
Share to Muscle Fibers, Skeletal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myofibrils

Share to Myopathies, Structural, Congenital

Share to Protein Aggregation, Pathological

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Source

Identifiers

PMID: 26969713
DOI: 10.1093/hmg/ddw080

Genes

BAG3
FLNC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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