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Article

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

Journal of neurology - 1 Jul 2010

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

Abstract excerpt

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 fam...

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Source

Identifiers

PMID: 20146070
DOI: 10.1007/s00415-010-5471-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20146070-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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