Title: | Homozygosity for CCTG mutation in myotonic dystrophy type 2 |
Journal : | Brain, 127, 8 |
Authors: | Schoser BGH ; Kress W ; Walter MC ; Halliger-Keller B ; Lochmuller H ; Ricker K |
Material Type: | Article |
Publication Date: | 2004 |
Size: | p. 1868-1877 |
Languages: | English |
Keywords : | Afghanistan ; brain ; CCTG quadruplet repeats ; chromosome 3 ; consanguinity ; family trees ; gène ZNF9 ; genetic mutations ; histopathology ; homozygotes ; molecular genetics ; MRI ; muscle biopsies ; myotonic dystrophy type 2 ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15231584 |