A T→C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome

F. M. Santorelli, S. Shanske, K. D. Jain, D. Tick, E. A. Schon, S. DiMauro

Research output: Contribution to journalArticle

Abstract

A 5-year-old child with clinical and radiologic evidence of Leigh syndrome (LS) showed a T→C mutation at position nt 8993 in the mitochondrial DNA (instead of the more common T→G substitution), resulting in an amino acid change from a highly conserved leucine to proline in subunit 6 of mitochondrial ATPase. The mutation was heteroplasmic and maternally inherited, and was present in high percentages in multiple tissues. This finding documents genetic heterogeneity of the ATPase 6 gene mutation associated with LS.

Original languageEnglish
Pages (from-to)972-974
Number of pages3
JournalNeurology
Volume44
Issue number5
Publication statusPublished - May 1994

ASJC Scopus subject areas

  • Neuroscience(all)

Fingerprint Dive into the research topics of 'A T→C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome'. Together they form a unique fingerprint.

  • Cite this

    Santorelli, F. M., Shanske, S., Jain, K. D., Tick, D., Schon, E. A., & DiMauro, S. (1994). A T→C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology, 44(5), 972-974.