P.15.7 A founder mutation in the titin gene is a common cause of myofibrillar myopathy with early respiratory failure

✍ Scribed by Pfeffer, G.; Barresi, R.; Wilson, I.J.; Hardy, S.A.; Griffin, H.; Hudson, J.; Elliott, H.R.; Ramesh, A.V.; Radunovic, A.; Winer, J.; Vaidya, S.; Raman, A.; Busby, M.; Farrugia, M.E.; Ming, A.; Everett, C.; Emsley, H.C.A.; Horvath, R.; Straub, V.; Bushby, K.; Lochmuller, H.; Chinnery, P.; Sarkozy, A.

• Book ID: 123278640
• Publisher: Elsevier Science
• Year: 2013
• Tongue: English
• Weight: 47 KB
• Volume: 23
• Category: Article
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2013.06.632