Title: | Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up |
Journal : | Neuromuscular disorders : NMD |
Authors: | Durmus H, Author ; Shen XM ; Serdaroglu-Oflazer P ; Kara B ; Parman-Gulsen Y ; Ozdemir C ; Brengman J ; Deymeer F ; Engel AG |
Material Type: | Article |
Publication Date: | 28/11/2017 |
General note: |
Erratum in:
Corrigendum to "Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up" [Neuromuscular Disorders 28/4 (2018) 315-322]. [Neuromuscul Disord. 2018] = "The authors regret that in the paper “Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up”, published in Neuromuscular Disorders, 28: 315-322, 2018 Table 1 as well as line 7 from bottom of column 1 of page 316 contain an error. At both places, “c.1220_1227dup (c.1160_1167dup)” mutation in CHRNE should read “c.1220-8_1227dup (c.1160-8_1167dup)”." |
Languages: | English |
Keywords : | CHAT gene ; CHRNE gene ; clinical presentation ; COLQ gene ; congenital myasthenic syndrome ; DES gene ; desminopathy ; DOK7 gene ; gène GFPT1 ; genetic analysis ; genetic diagnosis ; genetic mutations ; medical treatment ; nivotinic receptor genes ; retrospective studies ; Turkey |
Keywords: | Congenital myasthenic syndromes;Genetic;Myasthenia;Turkey; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2017.11.013 / Pubmed : 29395675 |
N° Profil MNM : | 2018021 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29395675 |