C.P.15 K7del is a recurrent TPM2 nemaline myopathy mutation associated with joint contractures and increased calcium sensitivity

✍ Scribed by Mokbel, N.; Ilkovski, B.; Memo, M.; Marttila, M.; Kreissl, M.; Wallgren-Pettersson, C.; Menard, D.; Marcorelles, P.; Echaniz-Laguna, A.; Reimann, J.; Vainzof, M.; Monnier, N.; Nowak, K.; McNamara, E.; Laing, N.G.; Trewhella, J.; Jeffries, C.; Ottenheijm, C.; North, K.N.; Clarke, N.F.

• Book ID: 119333769
• Publisher: Elsevier Science
• Year: 2012
• Tongue: English
• Weight: 53 KB
• Volume: 22
• Category: Article
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2012.06.143