ISSN:
1432-1459
Keywords:
Mitochondrial DNA deletion
;
Ragged red fibres
;
Ophthalmoplegia
;
Mitochondrial encephalomyopathies
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary Various mitochondrial DNA abnormalities have been described in patients with encephalomyopathies. We performed Southern blot analysis of skeletal muscle mitochondrial DNA in nine adult patients with clinical features and ragged red fibres suggesting mitochondrial dysfunction. Two patients with encephalomyopathy and two with the MERRF syndrome (myoclonus epilepsy with ragged red fibres) had the normal PvuII restriction pattern of muscle mitchondrial DNA. In contrast, mitochondrial DNA deletion was observed in two of six patients with ophthalmoplegia. One suffered from typical Kearns-Sayre syndrome and the other from isolated external ophthalmoplegia. None of these patients had affected relatives. The detection of mitochondrial DNA deletion in external ophthalmoplegia and their site and size support previously reported data.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00319685
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