Title: | The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies |
Journal : | Neuromuscular disorders : NMD |
Authors: | Perrin A ; Juntas Morales R ; Rivier F ; Cances C ; Walther Louvier U ; Van Goethem C ; Theze C ; Lacourt D ; Pegeot H ; Zenagui R ; Uro-Coste E ; Leboucq N ; Malfatti E ; Delaby C ; Lehmann S ; Rigau V ; Koenig M ; Cossee M |
Material Type: | Article |
Publisher: | England, 28/09/2020 |
Languages: | English |
Keywords : | guidelines |
Keywords: | Congenital myopathy;Deep phenotyping;Titin transcripts;Titin western-blot;Titinopathy; |
Pubmed / DOI : | Pubmed : 33127292 / DOI : 10.1016/j.nmd.2020.09.032 |
N° Profil MNM : | 2020111 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/33127292 |
See also : |