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Acta Neuropathologica
Published in: Acta Neuropathologica 3/2004

01-09-2004 | Case Report

Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature

Authors: Stephan Neudecker, Michael Krasnianski, Erik Bahn, Stephan Zierz

Published in: Acta Neuropathologica | Issue 3/2004

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Abstract

Rimmed vacuoles (RV) are a characteristic pathological feature in inclusion body myositis, but may also occur in other neuromuscular disorders, such as distal myopathies, oculopharyngeal myopathy, polymyositis, rigid spine syndrome, congenital myopathies, and some limb girdle muscular dystrophies, as well as in various neurogenic diseases. We describe a patient with RV in familial facioscapulohumeral muscular dystrophy (FSHD) associated with an FSHD-typical deletion on chromosome 4q35. Thus, FSHD should be included in the differential diagnosis of neuromuscular disorders with RV.
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Metadata
Title
Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature
Authors
Stephan Neudecker
Michael Krasnianski
Erik Bahn
Stephan Zierz
Publication date
01-09-2004
Publisher
Springer-Verlag
Published in
Acta Neuropathologica / Issue 3/2004
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI
https://doi.org/10.1007/s00401-004-0894-3

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