D’une famille à un réseau national. Histoire d’une titinopathie

Morphologie - Tập 102 - Trang 138-139 - 2018
Françoise Chapon1
1Service d’anatomie et cytologie pathologique et neuropathologie, CHU de Caen, université de Caen, Caen, France

Tài liệu tham khảo

Chauveau, 2014, A rising titan: TTN review and mutation update, Hum Mutat, 35, 1046, 10.1002/humu.22611 Hackman, 2017, 219th ENMC International Workshop. Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016, Neuromusc Disorders, 27, 396, 10.1016/j.nmd.2017.01.009 Savarese, 2016, Increasing role of titin mutations in neuromuscular disorders, J Neuromuscul Dis, 3, 293, 10.3233/JND-160158 Savarese M, Maggi L, Vihola A, et al. Interpreting genetic variants in titin in patients with muscle disorders. JAMA Neurol. doi:10.1001/jamaneurol.2017.4899.