A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

Marco Crimi, Sara Galbiati, Isabella Moroni, Andreina Bordoni, Maria Paola Perini, Eleonora Lamantea, Monica Sciacco, Massimo Zeviani, Ida Biunno, Maurizio Moggio, Guglielmo Scarlato, Giacomo Pietro Comi

Research output: Contribution to journalArticle

Abstract

A 13084 A->T missense mutation in the mitochondrial ND5 gene was identified in a 16-year-old boy affected with a progressive neurodegenerative disorder combining features of Leigh and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) syndromes. Muscle biopsy analysis revealed partial complex I deficiency. The mutation presented a variable degree of heteroplasmy in the patient's tissues. This finding underlines the contribution of mtDNA-encoded complex I subunits in the etiology of complex I deficiency associated with encephalopathy.

Original languageEnglish
Pages (from-to)1857-1861
Number of pages5
JournalNeurology
Volume60
Issue number11
Publication statusPublished - Jun 10 2003

ASJC Scopus subject areas

  • Neuroscience(all)

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    Crimi, M., Galbiati, S., Moroni, I., Bordoni, A., Perini, M. P., Lamantea, E., Sciacco, M., Zeviani, M., Biunno, I., Moggio, M., Scarlato, G., & Comi, G. P. (2003). A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology, 60(11), 1857-1861.