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Article

Dropped-head in recessive oculopharyngeal muscular dystrophy.

Neuromuscular disorders : NMD - 1 Nov 2015

Garibaldi Matteo, Pennisi Elena Maria, Bruttini Mirella, Bizzarri Veronica, Bucci Elisabetta, Morino Stefania, Talerico Caterina, Stoppacciaro Antonella, Renieri Alessandra, Antonini Giovanni

Abstract excerpt

A 69-year-old woman presented a dropped head, caused by severe neck extensor weakness that had started two years before. She had also developed a mild degree of dysphagia, rhinolalia, eyelid ptosis and proximal limb weakness during the last months. EMG revealed myopathic changes. Muscle MRI detected fatty infiltration in the posterior neck muscles and tongue. Muscle biopsy revealed fiber size variations, sporadic...

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Source

Identifiers

PMID: 26494409
DOI: 10.1016/j.nmd.2015.08.011

Genes

PABPN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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