Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity.
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Publication year
2004Source
Journal of Neurology, Neurosurgery, and Psychiatry, 75, 10, (2004), pp. 1499-501ISSN
Publication type
Article / Letter to editor
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Organization
Neurology
Human Genetics
Journal title
Journal of Neurology, Neurosurgery, and Psychiatry
Volume
vol. 75
Issue
iss. 10
Page start
p. 1499
Page end
p. 501
Subject
UMCN 1.3: Tumor microenvironment; UMCN 3.1: Neuromuscular development and genetic disorders; UMCN 3.3: Neurosensory disorders; UMCN 5.1: Genetic defects of metabolismAbstract
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 vacuoles, but the typical OPMD intranuclear filaments were absent. These clinical and histological characteristics are comparable with those of two Japanese patients with AR oculopharyngodistal myopathy. This myopathy has usually been described as an autosomal dominant (AD) muscle disorder. It shares some clinical and histological characteristics with OPMD, but most patients with AD oculopharyngodistal myopathy are genetically different. Here we exclude an expansion of the GCG repeat or any other mutation in the coding region of the PABPN1 gene (responsible for OPMD) in patients with AR oculopharyngodistal myopathy. From this we conclude that AR oculopharyngodistal myopathy is a distinct phenotypical, histological, and genetic entity.
This item appears in the following Collection(s)
- Academic publications [238441]
- Electronic publications [122537]
- Faculty of Medical Sciences [90373]
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