P24 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalling

Sharpe, J. A.; Logan, CV; Szabadkai, György; Torelli, Silvia; Childs, A.-M.; Kriek, Marjolein; Phadke, Rahul; Johnson, Clarence A.; Roberts, Nicola Y.; Bonthron, David T.; Pysden, Karen; Whyte, Tamieka; Munteanu, I.; Foley, A. Reghan; Wheway, Gabrielle; Szymańska, Katarzyna; Natarajan, Sathish Kumar; Abdelhamed, Zakia; Morgan, J.E.; Roper, HP; Santen, Gijs W.E.; Niks, Erik H.; Pol, W. Ludo van der; Lindhout, Dick; Raffaello, Anna; Stefani, Diego De; Dunnen, Johan T. den; Sun, Yi; Ginjaar, I.; Sewry, C.; Hurles, Matthew E.; Rizzuto, Rosario; Duchen, M; Muntoni, F.; Sheridan, E.

doi:10.1016/s0960-8966(14)70040-9

Neuromuscular Disorders

2014

DOI: 10.1016/s0960-8966(14)70040-9

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P24 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalling

J. A. Sharpe¹,

CV Logan²,

György Szabadkai³

et al.

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P24 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalling

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