Title: | Skeletal, cardiac and tongue muscle pathology, defective retinal transmission and neuronal migration defects in the large myd mouse defines a natural model for glycosylation-deficient muscle-eye-brain disorders |
Journal : | Human molecular genetics, 11, 21 |
Authors: | Holzfeind PJ ; Grewal PK ; Reitsamer HA ; Kechvar J ; Lassmann H ; Hoeger H ; Hewitt JE ; Bittner RE |
Material Type: | Article |
Publication Date: | 2002 |
Size: | p. 2673-2687 |
Languages: | English |
Keywords : | animal models ; brain ; cerebellum ; dystrophin complex ; eye diseases ; heart muscle ; muscle-eye-brain disease related to POMGNT1 ; myd mouse ; retina ; skeletal muscle ; synaptic transmission ; tongue |
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=12354792&query_hl=72&itool=pubmed_docsum |