Familial progressive external ophthalmoplegia with multisystem abnormalities: "new" features raising nosological problems

R. Cantello, L. Bergamini, W. Troni, A. Riccio, I. Chiado, L. Palmucci, M. de Marchi

Risultato della ricerca: Contributo su rivistaArticolo in rivistapeer review

Abstract

A 32-year-old female presented with progressive external ophthalmoplegia (PEO) and multisystem abnormalities, strikingly associated with myotonia and muscle hypertrophy. These two features were not found in her brother, who had a complex neuromuscular disorder complicating chronic PEO. In both subjects muscle biopsy revealed "ragged-red" fibres and myofibres containing glycogen granules, which were never bound by membranes. A severe demyelinating neuropathy was revealed by electrophysiological and morphological studies. Cranial CT scan showed extensive demyelination of the cerebral white matter. Genetic studies demonstrated that this familial syndrome is transmitted as an autosomal recessive trait.

Lingua originaleInglese
pagine (da-a)102-108
Numero di pagine7
RivistaJournal of Neurology
Volume232
Numero di pubblicazione2
DOI
Stato di pubblicazionePubblicato - mag 1985
Pubblicato esternamente

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