Title: | Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease) |
Journal : | European journal of human genetics : EJHG |
Authors: | Coote DJ, Author ; Davis MR ; Cabrera M ; Needham M ; Laing NG ; Nowak KJ |
Material Type: | Article |
Publication Date: | 26/04/2018 |
Languages: | English |
Keywords : | chlorine channel disease ; CLCN1 gene ; diagnosis ; differential diagnosis ; genetic analysis ; genetic diagnosis ; genetic mutations ; genetic risk ; genetics ; ion channel disease ; myotonia congenita ; Thomsen myotonia congenita |
Pubmed / DOI : | DOI : 10.1038/s41431-017-0065-3 / Pubmed : 29695755 |
N° Profil MNM : | 2018043 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29695755 |