Neurology. 2003 Jun 10;60(11):1857-61.

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

Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G, Comi GP.

Source

Dino Ferrari Center, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Ospedale Maggiore Policlinico, Italy. neurogene@policlinico.mi.it

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.

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A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
Neurology. 2003 Jun 10 ;60(11):1857-61.

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