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Article

Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.

Muscle & nerve - 1 Sept 2014

Ankala Arunkanth, Nallamilli Babi R, Rufibach Laura E, Hwang Esther, Hegde Madhuri R

Abstract excerpt

INTRODUCTION: Dysferlin deficiency causes dysferlinopathies. Among peripheral blood mononuclear cells (PBMCs), the dysferlin protein is expressed specifically in CD14(+) monocytes. METHODS: We quantified dysferlin protein levels in PBMC lysates of 77 individuals suspected clinically of having a dysferlinopathy to screen for true positives. Subsequent molecular confirmation was done by Sanger sequencing and...

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Identifiers

PMID: 24488599
DOI: 10.1002/mus.24195

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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