MELAS point mutation with unusual clinical presentation

Neuromuscul Disord. 1993 May;3(3):191-3. doi: 10.1016/0960-8966(93)90058-r.

Abstract

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a multisystemic mitochondrial disorder (Pavlakis et al. Advances in Contemporary Neurology. Philadelphia: Davis, 1988: 95-133) and most patients with the typical MELAS phenotype have a point mutation in mitochondrial DNA, an A to G transition at nucleotide 3243 (Goto et al. Nature 1990; 348; 651-653; Koboyashi et al. Biochem Biophys Res Commun 1990; 173: 816-822; Ciafaloni et al. Ann Neurol 1992; 31: 391-398). A 9-yr-old boy presenting with chronic asthma and depression was found to have abnormal mitochondria, partial defects of respiratory chain enzymes, and the MELAS point mutation.

Publication types

  • Case Reports

MeSH terms

  • Acid-Base Imbalance / metabolism
  • Child
  • DNA / metabolism
  • Electrocardiography
  • Epilepsy, Tonic-Clonic / pathology
  • Humans
  • MELAS Syndrome / genetics*
  • MELAS Syndrome / metabolism
  • MELAS Syndrome / pathology*
  • Male
  • Muscles / enzymology
  • Muscles / pathology
  • Point Mutation*
  • Polymerase Chain Reaction
  • Tomography, X-Ray Computed

Substances

  • DNA