Conference Proceedings

K7del is a recurrent TPM2 nemaline myopathy mutation associated with joint contractures and increased calcium sensitivity

N Mokbel, B Ilkovski, M Memo, M Marttila, M Kreissl, C Wallgren-Pettersson, D Menard, P Marcorelles, A Echaniz-Laguna, J Reimann, M Vainzof, N Monnier, K Nowak, E McNamara, NG Laing, J Trewhella, C Jeffries, C Ottenheijm, KN North, NF Clarke

Neuromuscular Disorders | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2012