Dysferlinopathy as cause of long-term hyperCKemia with preserved strength

Abstract Background Dysferlin (DYSF) has a crucial role in sarcolemmal repair. While DYSF mutations commonly manifest as limb-girdle muscular dystrophy (LGMDR2) or distal Miyoshi myopathy, atypical manifestations, such as asymptomatic hyperCKemia and pseudometabolic myopathy, are rarely reported. We...

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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	Ikreet Cheema, Jacob Goodwin, Teerin Liewluck, Robert Charles Bucelli, Alan Pestronk, Margherita Milone
Format:	Article
Language:	English
Published:	BMC 2025-06-01
Online Access:	https://doi.org/10.1186/s13023-025-03850-w