Diagnostic overview of blood‐based dysferlin protein assay for dysferlinopathies

201419 citationsJournal Article

Authors

Babi Ramesh Reddy Nallamilli · Emory University

Abstract

Our results suggest that dysferlin protein levels of ≤10% in PBMCs, are highly indicative of primary dysferlinopathies. However, this assay may not distinguish carriers from those with secondary dysferlin reduction.

Topics & Keywords

Muscle Physiology and Disorders Adipose Tissue and Metabolism Exercise and Physiological Responses

Publication Details

Published in: Muscle & Nerve

Volume 50, Issue 3, pp. 333-339

DOI: 10.1002/mus.24195

Field-Weighted Citation Impact: 1.12

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Diagnostic overview of blood‐based dysferlin protein assay for dysferlinopathies

Authors

Abstract

Topics & Keywords

Publication Details