Title: | Interpreting Genetic Variants in Titin in Patients With Muscle Disorders |
Journal : | JAMA Neurology, 75, 5 |
Authors: | Savarese M, Author ; Maggi L ; Vihola A ; Jonson PH ; Tasca G ; Ruggiero L ; Bello L ; Magri F ; Giugliano T ; Torella A ; Evila A ; Di Fruscio G ; Vanakker O ; Gibertini S ; Vercelli L ; Ruggieri A ; Antozzi C ; Luque H ; Janssens S ; Pasanisi MB ; Fiorillo C ; Raimondi M ; Ergoli M ; Politano L ; Bruno C ; Rubegni A ; Pane M ; Santorelli FM ; Minetti C ; Angelini C ; De Bleecker J ; Moggio M ; Mongini T ; Comi GP ; Santoro L ; Mercuri E ; Pegoraro E ; Mora M ; Hackman P ; Udd B ; Nigro V |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 557 |
General note: |
Erratum in:
Incorrect Degree. [JAMA Neurol. 2018] = "In the Original Investigation titled “Interpreting Genetic Variants in Titin in Patients With Muscle Disorders,” published online on February 12, 2018, sixth author Alessandra Ruggieri’s degree was incorrectly listed as “PhD” instead of “MSc.” This article was corrected online." |
Languages: | English |
Keywords : | clinical presentation ; genetic analysis ; genetic diagnosis ; genetic mutations ; titin-related disease ; TTN gene |
Abstract: |
Comment in:
Understanding Titin Variants in the Age of Next-Generation Sequencing-A Titanic Challenge. [JAMA Neurol. 2018] |
Pubmed / DOI : | DOI : 10.1001/jamaneurol.2017.4899 / Pubmed : 29435569 |
N° Profil MNM : | 2018022 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29435569 |