C.P.3 Genetic and clinical heterogeneity of RYR1-related myopathies in a cohort of 60 Dutch families with identification of 40 novel mutations

✍ Scribed by Voermans, N.C.; Jungbluth, H.; Raaphorst, J.; Snoeck, M.; Straathof, C.; Schelhaas, H.J.; Sie, L.; de Coo, R.; van de Pol, W.; de Visser, M.; Scheffer, H.; Kamsteeg, E.J.; van Engelen, B.G.M.

• Book ID: 119333757
• Publisher: Elsevier Science
• Year: 2012
• Tongue: English
• Weight: 46 KB
• Volume: 22
• Category: Article
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2012.06.131