A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure

✍ Scribed by Pfeffer, Gerald; Sambuughin, Nyamkhishig; Olivé, Montse; Tyndel, Felix; Toro, Camilo; Goldfarb, Lev G.; Chinnery, Patrick F.

• Book ID: 122996136
• Publisher: Elsevier Science
• Year: 2014
• Tongue: English
• Weight: 672 KB
• Volume: 24
• Category: Article
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2013.12.001