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Abnormal Expression of Dysferlin in Blood Monocytes Supports Primary Dysferlinopathy in Patients Confirmed by Genetic Analyses

4 Feb 2021

Abstract excerpt

Objective: Dysferlin deficiency causes dysferlinopathy. This study aimed to expand the mutational spectrum of dysferlinopathies, to further study one case with diagnostic ambiguity, and to identify the diagnostic value of dysferlin expression in total peripheral blood mononuclear cells (PBMC). Methods: The clinical and molecular profiles of dysferlinopathies in eight Chinese patients were evaluated. We also...

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PMID: 33613410
DOI: 10.3389/fneur.2020.540098

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