Title: | A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia |
Journal : | Iranian journal of medical sciences, 41, 5 |
Authors: | Miryounesi M, Author ; Ghafouri-Fard S ; Fardaei M |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 456 |
Languages: | English |
Keywords : | adulthood ; Becker myotonia congenita ; case studies ; CLCN1 gene ; family trees ; genetic mutations ; Iran ; male |
Keywords: | CLCN1 protein;Mutation;Myotonia congenita; |
Pubmed / DOI : | Pubmed : 27582597 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27582597 |