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

Neuromuscul Disord. 2004 Dec;14(12):815-7. doi: 10.1016/j.nmd.2004.09.002.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine / metabolism
  • Aged
  • Base Sequence / genetics
  • Chronic Disease
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / metabolism
  • Guanine / metabolism
  • Humans
  • Male
  • Muscle Fibers, Skeletal / metabolism
  • Muscle Fibers, Skeletal / pathology
  • Oculomotor Muscles / metabolism
  • Oculomotor Muscles / pathology
  • Oculomotor Muscles / physiopathology*
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Ophthalmoplegia, Chronic Progressive External / metabolism
  • Ophthalmoplegia, Chronic Progressive External / physiopathology
  • Point Mutation / genetics*
  • RNA, Transfer, Asn / genetics

Substances

  • DNA, Mitochondrial
  • RNA, Transfer, Asn
  • Guanine
  • Electron Transport Complex IV
  • Adenine