PMC Links for OMIM (Select 102573) - PMC - NCBI

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Items: 3

Select item 65453771.

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

Xavière Lornage, Norma B. Romero, Claire A. Grosgogeat, Edoardo Malfatti, Sandra Donkervoort, Michael M. Marchetti, Sarah B. Neuhaus, A. Reghan Foley, Clémence Labasse, Raphaël Schneider, Robert Y. Carlier, Katherine R. Chao, Livija Medne, Jean-François Deleuze, David Orlikowski, Carsten G. Bönnemann, Vandana A. Gupta, Michel Fardeau, Johann Böhm, Jocelyn Laporte

Acta Neuropathol. Author manuscript; available in PMC 2020 Mar 1.

Published in final edited form as: Acta Neuropathol. 2019 Mar; 137(3): 501–519. Published online 2019 Jan 30. doi: 10.1007/s00401-019-01963-8

PMCID:: PMC6545377

Abstract Article PDF–1.8M

Select item 43555002.

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death

Richard D Bagnall, Laura K Molloy, Jonathan M Kalman, Christopher Semsarian

BMC Med Genet. 2014; 15: 99. Published online 2014 Sep 16. doi: 10.1186/s12881-014-0099-0

PMCID:: PMC4355500

Abstract Article PDF–1.8M

Select item 33367833.

α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms

Vandana Gupta, Marie Discenza, Jeffrey R. Guyon, Louis M. Kunkel, Alan H. Beggs

FASEB J. 2012 May; 26(5): 1892–1908. doi: 10.1096/fj.11-194548

PMCID:: PMC3336783

Abstract Article

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