title: Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.
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.
authors.affiliation: Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Dario
authors.initials: D
authors.lastname: Ronchi
authors.forename: Andreina
authors.initials: A
authors.lastname: Bordoni
authors.forename: Alessandra
authors.initials: A
authors.lastname: Cosi
authors.forename: Mafalda
authors.initials: M
authors.lastname: Rizzuti
authors.forename: Elisa
authors.initials: E
authors.lastname: Fassone
authors.forename: Alessio
authors.initials: A
authors.lastname: Di Fonzo
authors.forename: Maura
authors.initials: M
authors.lastname: Servida
authors.forename: Monica
authors.initials: M
authors.lastname: Sciacco
authors.forename: Martina
authors.initials: M
authors.lastname: Collotta
authors.forename: Marco
authors.initials: M
authors.lastname: Ronzoni
authors.forename: Valeria
authors.initials: V
authors.lastname: Lucchini
authors.forename: Marco
authors.initials: M
authors.lastname: Mattioli
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.forename: Stefania
authors.initials: S
authors.lastname: Corti
authors.forename: Giacomo P
authors.initials: GP
authors.lastname: Comi
mesh_terms: D000328:Adult; D017668:Age of Onset; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D050259:Genes, Mitochondrial; D006801:Humans; D007888:Leigh Disease / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial