Miopatia mitocondriale con espressione clinica tipo distrofia oculo- faringea: Studio di un caso familiare

Translated title of the contribution: Mitochondrial myopathy with clinical expression of an oculo-pharyngeal muscular dystrophy: A familial case

G. De Luca, A. Toscano, M. Zeviani, L. Arcudi, C. Rodolico, M. Aguennouz, M. C. Fazio, F. Carrara, G. Vita

Research output: Contribution to journalArticlepeer-review

Abstract

We report here the clinical, biochemical and molecular genetic features of two women (mother and daughter) with onset, in their twenties, of eyelid ptosis and dysphagia mimicking an Oculo-Pharyngeal Muscular Dystrophy (OPMD). Later on they evidenced ophtalmoplegia and proximal muscle weakness as well as lactic acidosis. Myopathic EMG was present in both patients. Muscle biopsy revealed a number of 'ragged red fibers' and cytochrome c oxidase negative fibers in both cases. Biochemical analysis showed a partial cytochrome c oxidase deficiency. Southern blot analysis revealed mitochondrial DNA (mtDNA) multiple deletions that were confirmed by PCR studies. Although these patients seemed to be initially affected by OPMD, they had a mitochondrial myopathy with mtDNA multiple deletions. These genetic aspects are compatible with a primary genetic change in the nuclear DNA secondarily damaging the mtDNA. This suggests an autosomal-dominant trait in this family, although a matrilinear inheritance cannot be ruled out.

Translated title of the contributionMitochondrial myopathy with clinical expression of an oculo-pharyngeal muscular dystrophy: A familial case
Original languageItalian
Pages (from-to)481-486
Number of pages6
JournalRivista di Neurobiologia
Volume42
Issue number5-6
Publication statusPublished - 1996

ASJC Scopus subject areas

  • Neuroscience(all)

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