Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G→A mitochondrial DNA mutation

Antonella Spinazzola, Franco Carrara, Marina Mora, Massimo Zeviani

Research output: Contribution to journalArticle

Abstract

We describe a second patient carrying the 5698G→A transition in the mitochondrial DNA gene encoding tRNA Asn, who has an apparently isolated mitochondrial myopathy with chronic progressive external ophthalmoplegia. A muscle biopsy showed the presence of ragged-red and COX-negative fibres. Analysis of the mutation load on single muscle fibres showed significant segregation of the 5698G→A with COX-depleted fibres. These results indicate that the 5698G→A is pathogenic.

Original languageEnglish
Pages (from-to)815-817
Number of pages3
JournalNeuromuscular Disorders
Volume14
Issue number12
DOIs
Publication statusPublished - Dec 2004

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Keywords

  • Chronic progressive external ophthalmoplegia
  • Mitochondrial myopathy
  • mtDNA
  • Point mutation
  • tRNA

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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