Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Clare V. Logan(St James's University Hospital), György Szabadkai(University of Padua), Jenny A. Sharpe(University College London), David Parry(St James's University Hospital), Silvia Torelli(University College London), Anne‐Marie Childs(Leeds General Infirmary), Marjolein Kriek(Leiden University Medical Center), Rahul Phadke(MRC Prion Unit), Colin A. Johnson(St James's University Hospital), Nicola Roberts(St James's University Hospital), David T. Bonthron(St James's University Hospital), Karen Pysden(Leeds General Infirmary), Tamieka Whyte(University College London), Iulia Munteanu(University College London), A. Reghan Foley(University College London), Gabrielle Wheway(St James's University Hospital), Katarzyna Szymańska(St James's University Hospital), Subaashini Natarajan(St James's University Hospital), Zakia A. Abdelhamed(St James's University Hospital), Joanne Morgan(St James's University Hospital), H. Roper(Heartlands Hospital), Gijs W.E. Santen(Leiden University Medical Center), E. Niks(Leiden University Medical Center), W. Ludo van der Pol(Utrecht University), Dick Lindhout(University Medical Center Utrecht), Anna Raffaello(University of Padua), Diego De Stefani(University of Padua), Johan T. den Dunnen(Leiden University Medical Center), Yu Sun(Leiden University Medical Center), Ieke B. Ginjaar(Leiden University Medical Center), Caroline A. Sewry(Robert Jones and Agnes Hunt Orthopaedic Hospital), Matthew E. Hurles(Wellcome Sanger Institute), Rosario Rizzuto(University of Padua), Michael R. Duchen(University College London), Francesco Muntoni(University College London), Eamonn Sheridan(St James's University Hospital)
Nature Genetics
December 15, 2013
Cited by 372Open Access
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