Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation

Dario Ronchi, Andreina Bordoni, Alessandra Cosi, Mafalda Rizzuti, Elisa Fassone, Alessio Di Fonzo, Maura Servida, Monica Sciacco, Martina Collotta, Marco Ronzoni, Valeria Lucchini, Marco Mattioli, Maurizio Moggio, Nereo Bresolin, Stefania Corti, Giacomo P. Comi

Research output: Contribution to journalArticle

Abstract

Leigh syndrome (LS) is an incurable, nearly always fatal, neurodegenerative, pediatric disorder that results from respiratory chain failure. The most common mitochondrial DNA (mtDNA) mutations that result in LS are m.8993T→C/G and m.9176T→C/G, which were previously found in several patients with early-onset Leigh syndrome. Here, we describe clinical and molecular features of a novel pedigree, where LS developed in two siblings. The proband was a young woman with an unusual adult-onset LS. She harbored a homoplasmic m.9176T→C mutation, based on analysis of a muscle biopsy. In contrast, the brother died at a young age. This novel case report and literature review highlights the variability of phenotypic expression of the m.9176T→C mutation.

Original languageEnglish
Pages (from-to)245-248
Number of pages4
JournalBiochemical and Biophysical Research Communications
Volume412
Issue number2
DOIs
Publication statusPublished - Aug 26 2011

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Keywords

  • Leigh disease maternally inherited
  • Leigh's disease
  • Mitochondrial disease
  • MT-ATP6 protein

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Cell Biology
  • Molecular Biology

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