Title: | Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges |
Journal : | Human molecular genetics |
Authors: | Sicot G ; Gourdon G ; Gomes Pereira M |
Material Type: | Article |
Publication Date: | 2011 |
Size: | 20, R2, p. R116-R123 |
Languages: | English |
Keywords : | alternative splicing ; CCTG quadruplet repeats ; CTG triplet repeats ; differential diagnosis ; DMPK gene ; gene expression ; gene therapy ; gène ZNF9 ; genetic mutations ; interfering RNA ; microARN ; myotonic dystrophy ; myotonic dystrophy type 1 ; myotonic dystrophy type 2 ; therapeutic prospects ; toxicity ; transcription factors |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21821673 |
Pubmed / DOI : | DOI : 10.1093/hmg/ddr343 |