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Article

DNA sequencing errors in molecular diagnostics of filamin myopathy.

Clinical chemistry and laboratory medicine - 1 Oct 2010

Odgerel Zagaa, van der Ven Peter F M, Fürst Dieter O, Goldfarb Lev G

Abstract excerpt

BACKGROUND: Filamin myopathy is a neuromuscular disorder manifesting with predominantly limb-girdle muscle weakness and in many patients with diaphragm paralysis and cardiomyopathy, caused by mutations in the filamin C (FLNC) gene. Molecular diagnosis of filamin myopathy based on direct DNA sequencing of coding exons is compromised by the presence of a high homology pseudogene (pseFLNC) located approximately 53.6...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20578970
DOI: 10.1515/CCLM.2010.272

Genes

FLNC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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