Title: | The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes |
Journal : | Neuropediatrics, 48, 4 |
Authors: | McMacken G, Author ; Abicht A ; Evangelista T ; Spendiff S ; Lochmuller H |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 294 |
Languages: | English |
Keywords : | clinical presentation ; congenital myasthenic syndrome ; differential diagnosis ; electrodiagnosis ; electromyography ; genetic diagnosis ; genotype-phenotype correlation ; medical treatment ; neuromuscular junctions ; phenotypic heterogeneity ; reviews |
Pubmed / DOI : | DOI : 10.1055/s-0037-1602832 / Pubmed : 28505670 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28505670 |