Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation |
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| Authors: | Ronchi Dario Bordoni Andreina Cosi Alessandra Rizzuti Mafalda Fassone Elisa Di Fonzo Alessio Servida Maura Sciacco Monica Collotta Martina Ronzoni Marco Lucchini Valeria Mattioli Marco Moggio Maurizio Bresolin Nereo Corti Stefania Comi Giacomo P |
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| Affiliation: | aDino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy;bCentre of Excellence on Neurodegenerative Diseases, University of Milan, Milan, Italy;cIRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy;dAzienda Ospedaliera Guido Salvini, Garbagnate, Italy |
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| 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. |
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| Keywords: | Leigh&rsquo s disease Leigh disease maternally inherited Mitochondrial disease MT-ATP6 protein |
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