Mitochondrial abnormalities in oculopharyngeal muscular dystrophy

Wong, K.T. and Dick, D. and Anderson, J.E.R. (1996) Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. Journal of the University of Malaya Medical Centre (JUMMEC), 1 (2). p. 59. ISSN 1823-7339,

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This report describes a 56-yr-old man with a dominantly inherited disorder affecting four generations and characterized by bilateral ptosis and dysphagia. Muscle biopsy showed only minor light microscopic abnormalities but electron microscopy revealed fibres containing paracrystalline mitochondrial inclusions. Southern analysis of mitochondrial DNA obtained from muscle did not reveal mitochondrial gene deletions. An extensive search eventually identified the characteristic intranuclear filaments of oculopharyngeal muscular dystrophy (OPMD). Abnormal mitochondria are non-specific epiphenomena in OPMD but a potential source of confusion with a late-onset mitochondrial cytopathy. This case further emphasizes the necessity for a diligent search for the diagnostic intranuclear filaments when oculopharyngeal muscular dystrophy is suspected clinically.

Item Type: Article
Uncontrolled Keywords: Mitochondrial abnormalities; oculopharyngeal muscular dystrophy
Subjects: R Medicine
Divisions: Faculty of Medicine
Depositing User: Mr Jasny Razali
Date Deposited: 24 Mar 2021 01:38
Last Modified: 24 Mar 2021 01:38

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