Title: | Myotilin is mutated in limb girdle muscular dystrophy 1A |
Journal : | Human molecular genetics, 9, 14 |
Authors: | Hauser MA ; Horrigan SK ; Salmikangas P ; Torian UM ; Viles KD ; Dancel R ; Taivainen A ; Bartoloni L ; Gilchrist JM ; Stajich JM ; Gaskell PC ; Gilbert JR ; Vance JM ; Pericak-Vance MA ; Carpen O ; Westbrook CA ; Speer MC ; Tim RW |
Material Type: | Article |
Publication Date: | 2000 |
Size: | p. 2141-2147 |
Languages: | English |
Keywords : | chromosome 5 ; gene identification ; myotilin ; myotilin-related limb-girdle muscular dystrophy ; nonsense mutations ; physiopathology |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=10958653&query_hl=1&itool=pubmed_docsum |