Publication
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity
Nancy Mokbel, Biljana Ilkovski, Michaela Kreissl, Massimiliano Memo, Cy M. Jeffries, Minttu Marttila, Vilma-Lotta Lehtokari, Elina Lemola, Mikaela Grönholm, Nan Yang, Dominique Menard, Pascale Marcorelles, Andoni Echaniz-Laguna, Jens Reimann, Mariz Vainzof, Nicole Monnier, Gianina Ravenscroft, Elyshia McNamara, Kristen J. Nowak, Nigel G. Laing, Carina Wallgren-Pettersson, Jill Trewhella, Steve Marston, Coen Ottenheijm, Kathryn N. North, Nigel F. Clarke
Brain, January 2013, Oxford University Press (OUP)
DOI: 10.1093/brain/aws348