Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
Gerald Pfeffer, Rita Barresi, Ian J Wilson, Steven A Hardy, Helen Griffin, Judith Hudson, Hannah R Elliott, Aravind V Ramesh, Aleksandar Radunovic, John B Winer, Sujit Vaidya, Ashok Raman, Mark Busby, Maria E Farrugia, Alec Ming, Chris Everett, Hedley C A Emsley, Rita Horvath, Volker Straub, Kate Bushby, Hanns Lochmüller, Patrick F Chinnery, Anna Sarkozy
Journal of Neurology, Neurosurgery & Psychiatry Mar 2014, 85 (3) 331-338; DOI: 10.1136/jnnp-2012-304728
