Title: | A 'second truncation' in TTN causes early onset recessive muscular dystrophy |
Journal : | Neuromuscular disorders : NMD, 27, 11 |
Authors: | Harris E, Author ; Topf A ; Vihola A ; Evila A ; Barresi R ; Hudson J ; Hackman P ; Herron B ; Macarthur D ; Lochmuller H ; Bushby K ; Udd B ; Straub V |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 1009 |
Languages: | English |
Keywords : | cardiomyopathy ; case studies ; clinical presentation ; genetic diagnosis ; genetic mutations ; limb girdle muscular dystrophy ; MRI ; muscle histopathology ; sequencing ; titin ; titin-related disease ; TTN gene |
Keywords: | Dilated cardiomyopathy;Exome sequencing;Limb girdle muscular dystrophy;Titin;Titinopathy; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2017.06.013 / Pubmed : 28716623 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28716623 |