Clinical features of MELAS and mitochondrial DNA mutations

Muscle Nerve Suppl. 1995;3:S107-12. doi: 10.1002/mus.880181422.

Abstract

MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes) is a distinct disorder characterized clinically by repeated strokelike attacks mostly beginning in childhood. We have paid special attention to the blood vessel abnormality seen in most biopsied muscle, in terms of the strokelike episodes in MELAS. The 3243 mutation in 80% of the typical MELAS patients has also been found in patients differing from the MELAS phenotype. Because we have examined muscle biopsies in 94 MELAS or 3243-positive patients, it is worthwhile to summarize the clinical and pathological findings and to prove the discrepancy between phenotype and genotype. This may be a starting point for further discussion of the pathomechanism and so toward further understanding of the disease itself.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Vessels / metabolism
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / metabolism
  • Humans
  • MELAS Syndrome / enzymology
  • MELAS Syndrome / genetics*
  • MELAS Syndrome / pathology
  • MERRF Syndrome / enzymology
  • MERRF Syndrome / pathology
  • Muscles / pathology
  • Mutation*
  • Ophthalmoplegia / pathology
  • RNA, Transfer, Lys / genetics
  • Succinate Dehydrogenase / metabolism

Substances

  • DNA, Mitochondrial
  • RNA, Transfer, Lys
  • Succinate Dehydrogenase
  • Electron Transport Complex IV