MITOCHONDRIAL ABNORMALITIES IN OCULOPHARYNGEAL MUSCULAR-DYSTROPHY

This report describes a 56-yr-old man with a dominantly inherited diso rder affecting four generations End characterized by bilateral ptosis and dysphagia. Muscle biopsy showed only minor light microscopic abnor malities but electron microscopy revealed fibres containing paracrysta lline 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 mito chondria are non-specific epiphenomena in OPMD but a potential source of confusion with a late-onset mitochondrial cytopathy. This case furt her emphasizes the necessity For a diligent search for the diagnostic intranuclear filaments when oculopharyngeal muscular dystrophy is susp ected clinically. Copyright (C) 1996 Published by Elsevier Science Ltd .