MELAS point mutation with unusual clinical presentation

A. L. Shanske*, S. Shanske, Gabriella Silvestri, K. Tanji, D. Wertheim, S. Lipper

*Corresponding author

Research output: Contribution to journalArticle

34 Citations (Scopus)

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. © 1993.
Original languageEnglish
Pages (from-to)191-193
Number of pages3
JournalNeuromuscular Disorders
Volume3
Issue number3
DOIs
Publication statusPublished - 1993

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

Keywords

  • MELAS
  • encephalomyopathy
  • mtDNA mutation

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