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

Author(s):
Logan, C.V.; Szabadkai, G.; Sharpe, J.A.; Parry, D.A.; Torelli, S.; Childs, A.M.; Kriek, M.; Phadke, R.; Johnson, C.A.; Roberts, N.Y.; Bonthron, D.T.; Pysden, K.A.; Whyte, T.; Munteanu, I.; Foley, A.R.; Wheway, G.; Szymanska, K.; Natarajan, S.; Abdelhamed, Z.A.; Morgan, J.E.; Roper, H.; Santen, G.W.E.; Niks, E.H. (0000-0001-5892-5143); Pol, W.L. van der; Lindhout, D.; Raffaello, A.; Stefani, D. de; Dunnen, J.T. den (0000-0002-6304-1710); Sun, Y.; Ginjaar, I.; Sewry, C.A.; Hurles, M.; Rizzuto, R.; Duchen, M.R.; Muntoni, F.; Sheridan, E.; UK10K Consortium
Published
2014
Publication type
Article / Letter to editor
Date issued
2014-02-28
Language
English
Is part of
Nature Genetics (2014), Vol. 46, no. 2, p. 188-+
hdl
1887/104019
doi
10.1038/ng.2851