Title: | Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy |
Journal : | Molecular neurobiology, 54, 9 |
Authors: | Evila A, Author ; Palmio J ; Vihola A ; Savarese M ; Tasca G ; Penttila S ; Lehtinen S ; Jonson PH ; De Bleecker J ; Rainer P ; Auer Grumbach M ; Pouget J ; Salort-Campana E ; Vilchez JJ ; Muelas N ; Olive M ; Hackman P ; Udd B |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 7212 |
Languages: | English |
Keywords : | childhood ; DNA ; exon ; female ; genetics ; human ; protein ; sequencing ; titin-related disease ; young adults |
Keywords: | Distal myopathy;TTN;Titin;Titinopathy; |
Pubmed / DOI : | DOI : 10.1007/s12035-016-0242-3 / Pubmed : 27796757 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27796757 |