Title: | Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission |
Journal : | American Journal of Medical Genetics Part A, 173, 8 |
Authors: | Maselli RA, Author ; Arredondo J ; Vázquez J ; Chong JX ; Bamshad MJ ; Nickerson DA ; Lara M ; Ng F ; Lo VL ; Pytel P ; McDonald CM |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 2240 |
Languages: | English |
Keywords : | case studies ; congenital myasthenic syndrome ; consanguinity ; electrodiagnosis ; electron microscopy ; gène LAMA1 ; gène LAMA5 ; genetic mutations ; laminine alpha-5 ; neuromuscular junctions |
Keywords: | LAMA5;congenital myasthenic syndrome (CMS);laminin alpha5;presynaptic; |
Pubmed / DOI : | DOI : 10.1002/ajmg.a.38291 / Pubmed : 28544784 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28544784 |