Title: | Muscular dystrophies due to defective glycosylation of dystroglycan |
Journal : | Acta myologica, XXVI, 3 |
Authors: | Muntoni F ; Brockington M ; Godfrey C ; Ackroyd M ; Robb S ; Manzur A ; Kinali M ; Mercuri E ; Kaluarachchi M ; Feng L ; Jimenez-Mallebrera C ; Clement E ; Torelli S ; Sewry CA ; Brown SC |
Material Type: | Article |
Publication Date: | 12/2007 |
Size: | p. 129-135 |
Languages: | English |
Keywords : | alleles ; alpha-dystroglycan ; FKRP gene ; FKTN gene ; genetic mutations ; glycosylation ; glycosyltransferases ; LARGE gene ; muscular dystrophy ; POMGNT1 gene ; POMGNT1-related limb-girdle muscular dystrophy R15 ; POMT1 gene ; POMT2 gene |
Abstract: | Accès au résumé Pubmed/to pubmed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/18646561?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum |