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Article

Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity.

Journal of neurology, neurosurgery, and psychiatry - 1 Oct 2004

van der Sluijs B M, ter Laak H J, Scheffer H, van der Maarel S M, van Engelen B G M

Abstract excerpt

We present a 25 year follow up of two siblings with autosomal recessive (AR) oculopharyngodistal myopathy. Remarkable in these patients, in comparison with patients with oculopharyngeal muscular dystrophy (OPMD), are the earlier age of onset, severe facial weakness, external ophthalmoplegia early in the course of the disease, and distal weakness in the limbs. Histological features included basophilic-rimmed...

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Source

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Identifiers

PMID: 15377709
DOI: 10.1136/jnnp.2003.025072
PMCID: PMC1738751

Genes

GCG
PABPN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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