A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity. Issue 12 (23rd September 2013)

• Record Type: Journal Article
• Authors: Invernizzi, Federica; Tigano, Marco; Dallabona, Cristina; Donnini, Claudia; Ferrero, Ileana; Cremonte, Maurizio; Ghezzi, Daniele; Lamperti, Costanza; Zeviani, Massimo
• Is Part Of: Human mutation. Volume 34:Issue 12(2013:Dec.)
• Page Start: 1619
• Page End: 1622
• Publication Date: 2013-09-23
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22441
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22441-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We report the first patient affected by an infantile mitochondrial disease caused by a mutation in LYRM7.</p> <p>The patient displayed severe complex III deficiency, associated with early‐onset lactic acidosis and rapidly progressive encephalopathy.</p> <p>A yeast recombinant model carrying the equivalent mutant allele has impaired oxidative growth, reduced respiration, lowclll activity and amount, impaired maturation/stabilization of the Rieske Fe‐S protein confirming the pathogenic role of the human variant. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3wjb5055" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>