Title: | Late presentations of congenital myasthenic syndromes - how many do we miss? |
Journal : | Muscle & Nerve, 54, 4 |
Authors: | Garg N, Author ; Yiannikas C ; Hardy TA ; Belaya K ; Cheung J ; Beeson D ; Reddel SW |
Material Type: | Article |
Publication Date: | 2016 |
ISBN (or other code): | 26910802 |
Size: | p 721 |
Languages: | English |
Keywords : | Australia ; CHRNA gene ; cohort studies ; congenital myasthenic syndrome ; début tardif de la maladie ; differential diagnosis ; genetic diagnosis ; RAPSN gene ; sequencing ; seronegative myasthenia gravis |
Keywords: | CHRNA1;RAPSN;congenital myasthenic syndrome;genetics;myasthenia gravis;seronegative; |
Pubmed / DOI : | Pubmed : 26910802 / DOI : 10.1002/mus.25085 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/26910802 |