Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes

Abstract Mitochondrial disorders are clinically and genetically diverse, with isolated complex III (CIII) deficiency being relatively rare. Here, we describe two affected cousins, presenting with recurrent episodes of severe lactic acidosis, hyperammonaemia, hypoglycaemia and encephalopathy. Genetic...

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Detalhes bibliográficos

Principais autores:	Silvia Vidali, Raffaele Gerlini, Kyle Thompson, Jill E Urquhart, Jana Meisterknecht, Juan Antonio Aguilar‐Pimentel, Oana V Amarie, Lore Becker, Catherine Breen, Julia Calzada‐Wack, Nirav F Chhabra, Yi‐Li Cho, Patricia da Silva‐Buttkus, René G Feichtinger, Kristine Gampe, Lillian Garrett, Kai P Hoefig, Sabine M Hölter, Elisabeth Jameson, Tanja Klein‐Rodewald, Stefanie Leuchtenberger, Susan Marschall, Philipp Mayer‐Kuckuk, Gregor Miller, Manuela A Oestereicher, Kristina Pfannes, Birgit Rathkolb, Jan Rozman, Charlotte Sanders, Nadine Spielmann, Claudia Stoeger, Marten Szibor, Irina Treise, John H Walter, Wolfgang Wurst, Johannes A Mayr, Helmut Fuchs, Ulrich Gärtner, Ilka Wittig, Robert W Taylor, William G Newman, Holger Prokisch, Valerie Gailus‐Durner, Martin Hrabě de Angelis
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Springer Nature 2021-11-01
coleção:	EMBO Molecular Medicine
Assuntos:	complex III mitochondrial disease mouse model OXPHOS UQCRH
Acesso em linha:	https://doi.org/10.15252/emmm.202114397
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