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Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature

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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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Authors and Affiliations

  1. Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06097, Halle (Saale), Germany

    Stephan Neudecker, Michael Krasnianski & Stephan Zierz

  2. Department of Neuropathology, Georg-August-University Göttingen, Göttingen, Germany

    Erik Bahn

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  1. Stephan Neudecker
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  2. Michael Krasnianski
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  3. Erik Bahn
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  4. Stephan Zierz
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Correspondence to Michael Krasnianski.

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Neudecker, S., Krasnianski, M., Bahn, E. et al. Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature. Acta Neuropathol 108, 257–259 (2004). https://doi.org/10.1007/s00401-004-0894-3

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  • DOI: https://doi.org/10.1007/s00401-004-0894-3

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