Deletion of mitochondrial DNA in patients with combined features of kearns‐sayre and MELAS syndromes

Mary L. Zupanc*, Carlos T. Moraes, Sara Shanske, Craig Langman, Emma Ciafaloni, Salvatore DiMauro

*Corresponding author for this work

Research output: Contribution to journalArticle

80 Scopus citations

Abstract

A 9‐year‐old girl and an 11‐year‐old boy had ptosis, progressive external ophthalmoplegia, pigmentary retinopathy, and sensorineural hearing loss. The girl had diabetes mellitus and the boy had hypoparathyroidism. Both children also developed recurrent vomiting and cerebral infarcts with lactic acidosis. Muscle biopsy specimens showed ragged‐red fibers and Southern analysis demonstrated a distinct heteropolasmic deletion of muscle mitochondrial DNA in each patient but no evidence of the point mutation in the transfer RNALeu(UUR) generecently identified in mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes (MELAS). These 2 children had combined features of Kearns‐Sayre syndrome and MELAS, suggesting that mitochondrial DNA deletions occasionally can have pleomorphic clinical expression.

Original languageEnglish (US)
Pages (from-to)680-683
Number of pages4
JournalAnnals of Neurology
Volume29
Issue number6
DOIs
StatePublished - Jan 1 1991

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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