Maternally inherited Leigh syndrome

Emma Ciafaloni, Filippo M. Santorelli, Sara Shanske, Thierry Deonna, Eliane Roulel, Charles Janzer, Graziano Pescia, Salvatore DiMauro

Research output: Contribution to journalArticlepeer-review


A 61/2-year-old girl had developmental regression, and Leigh syndrome was diagnosed. A second girl born to the same mother after heterologous artificial insemination also lost acquired skills and died at 21/2 years of age; neuropathologic examination confirmed the diagnosis of Leigh syndrome. Tissues from both children and from the mother had a point mutation at nucleotide 8993 in the adenosinetriphosphatase 6-gene of mitochondrial DNA. This family illustrates that Leigh syndrome can be transmitted by maternal inheritance.

Original languageEnglish
Pages (from-to)419-422
Number of pages4
JournalJournal of Pediatrics
Issue number3
Publication statusPublished - 1993

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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