@article{cca9cf6a395e4de5b44b2f18d395c6e7,
title = "Titin mutation segregates with hereditary myopathy with early respiratory failure",
keywords = "cytoplasmic body, distal myopathy, exome sequencing, hereditary myopathy with early respiratory failure, titin, cytoplasmic body, distal myopathy, exome sequencing, hereditary myopathy with early respiratory failure, titin",
author = "Gerald Pfeffer and Elliott, \{Hannah R\} and Helen Griffin and Rita Barresi and James Miller and Julie Marsh and Anni Evil{\"a} and Anna Vihola and Peter Hackman and Volker Straub and Dick, \{David J\} and Rita Horvath and Mauro Santibanez-Koref and Bjarne Udd and Chinnery, \{Patrick F\}",
year = "2012",
doi = "10.1093/brain/aws102",
language = "English",
volume = "135",
pages = "1695--1713",
journal = "Brain",
issn = "0006-8950",
publisher = "Oxford University Press",
number = "6",
}