Title: | Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome |
Journal : | Brain : a journal of neurology, 139, Pt8 |
Authors: | O'Connor E, Author ; Topf A ; Müller JS ; Cox D ; Evangelista T ; Colomer J ; Abicht A ; Senderek J ; Hasselmann O ; Yaramis A ; Laval SH ; Lochmuller H |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 2143 |
Languages: | English |
Keywords : | axons ; congenital myasthenic syndrome ; embryogenesis ; family trees ; gene identification ; motor neurons ; mouse model ; MYO9A gene ; myosin ; neuritis ; neuromuscular junctions ; sequencing ; zebrafish |
Keywords: | MYO9A;congenital myasthenic syndrome;neuromuscular junction;unconventional myosin;whole exome sequencing; |
Pubmed / DOI : | DOI : 10.1093/brain/aww130 / Pubmed : 27259756 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27259756 |
See also : |