Title: | Genetic basis and phenotypic features of congenital myasthenic syndromes |
Journal : | Handbook of clinical neurology, 148 |
Authors: | Engel AG, Author |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 565 |
Languages: | English |
Keywords : | clinical presentation ; congenital myasthenic syndrome ; diagnosis ; differential diagnosis ; diseases classifications ; genetic analysis ; genetic diagnosis ; genetic mutations ; glycosylation ; medical treatment ; neuromuscular junction disease ; neuromuscular junctions ; physiopathology ; reviews |
Keywords: | EMG;congenital myasthenic syndromes;exome sequencing;mutation analysis;neuromuscular junction;neuromuscular transmission;phenotypic clues;therapy; |
Pubmed / DOI : | DOI : 10.1016/B978-0-444-64076-5.00037-5 / Pubmed : 29478601 |
N° Profil MNM : | 2018032 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29478601 |