@article{0af046e079c94e38ab20caf538db49e6,
title = "A 'second truncation' in TTN causes early onset recessive muscular dystrophy",
keywords = "Titin, Titinopathy, Limb girdle muscular dystrophy, Exome sequencing, Dilated cardiomyopathy, C-TERMINAL TITIN, CARDIOMYOPATHY, MYOPATHY, TITINOPATHY, MUTATIONS, GENES, PHENOTYPE, 3111 Biomedicine",
author = "Elizabeth Harris and Ana T{\"o}pf and Anna Vihola and Anni Evil{\"a} and Rita Barresi and Judith Hudson and Peter Hackman and Brian Herron and Daniel MacArthur and Hanns Lochm{\"u}ller and Kate Bushby and Bjarne Udd and Volker Straub",
year = "2017",
month = nov,
doi = "10.1016/j.nmd.2017.06.013",
language = "English",
volume = "27",
pages = "1009--1017",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Scientific Publ. Co",
number = "11",
}