Title: | Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned |
Journal : | JAMA Neurology, 72, 12 |
Authors: | Ghaoui R, Author ; Cooper ST ; Lek M ; Corbett A ; Reddel SW ; Needham M ; Liang C ; Waddell LB ; Nicholson G ; O'Grady G ; Kaur S ; Phil M ; Ong R ; Davis M ; Sue CM ; Laing NG ; North K ; Macarthur DG ; Clarke NF |
Material Type: | Article |
Publication Date: | 2015 |
Size: | p 1424 |
Languages: | English |
Keywords : | cross-sectional study ; diagnosis ; limb girdle muscular dystrophy ; orbicularis oculi muscle ; sequencing |
Abstract: |
Comment in:
Dismantling Limb-Girdle Muscular Dystrophy: The Role of Whole-Exome Sequencing. [JAMA Neurol. 2015] Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy. [Nat Rev Neurol. 2016] |
Pubmed / DOI : | DOI : 10.1001/jamaneurol.2015.2274 / Pubmed : 26436962 |
See also : |