Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Abstract Background Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence of nemaline rods in muscle fibers. Phenotypic characterization in a large cohort and a comprehensive overview of SLONM are lacking. Methods We studied the clinico-pa...

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Bibliographic Details
Main Authors: Lukas J. Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, Werner Stenzel, Elisabeth J. Rushing, Philip Van Damme, Andreas Ferbert, Susanne Petri, Christian Hartmann, Antje Bornemann, Andreas Meisel, Jens A. Petersen, Thomas Tousseyn, Dietmar R. Thal, Jens Reimann, Peter De Jonghe, Jean-Jacques Martin, Peter Y. Van den Bergh, Jörg B. Schulz, Joachim Weis, Kristl G. Claeys
Format: Article
Language:English
Published: BMC 2017-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:http://link.springer.com/article/10.1186/s13023-017-0640-2