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01.07.2010 | Original Communication

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy

verfasst von: Peter Reilich, Nicolai Schramm, Benedikt Schoser, Peter Schneiderat, Nicola Strigl-Pill, Josef Müller-Höcker, Wolfram Kress, Andreas Ferbert, Sabine Rudnik-Schöneborn, Johannes Noth, Hanns Lochmüller, Joachim Weis, Maggie C. Walter

Erschienen in: Journal of Neurology | Ausgabe 7/2010

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Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy and usually follows an autosomal dominant trait. Clinically, FSHD affects facial muscles and proximal upper limb and girdle muscles, but may present with variable clinical phenotypes even within the same family. Most genetically confirmed FSHD patients exhibit unspecific morphological signs of a degenerative myopathy. We report on five unrelated patients who carried the pathogenic FSHD mutation on chromosome 4q35. Muscle biopsies revealed numerous rimmed vacuoles and filamentous cytoplasmic inclusions in all cases. Clinically, the patients suffered from weakness and atrophy predominantly of the lower limb muscles. In conclusion, we suggest considering FSHD in the differential diagnosis of adult-onset distal myopathies with rimmed vacuoles.

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Titel: Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy
verfasst von: Peter Reilich
Nicolai Schramm
Benedikt Schoser
Peter Schneiderat
Nicola Strigl-Pill
Josef Müller-Höcker
Wolfram Kress
Andreas Ferbert
Sabine Rudnik-Schöneborn
Johannes Noth
Hanns Lochmüller
Joachim Weis
Maggie C. Walter
Publikationsdatum: 01.07.2010
Verlag: Springer-Verlag
Erschienen in: Journal of Neurology / Ausgabe 7/2010
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-010-5471-1

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