Title: | Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations |
Journal : | Neurology, 67, 7 |
Authors: | Müller JS ; Baumeister SK ; Rasic VM ; Krause S ; Todorovic S ; Kugler K ; Muller Felber W ; Abicht A ; Lochmuller H |
Material Type: | Article |
Publication Date: | 2006 |
Size: | p. 1159-1164 |
Languages: | English |
Keywords : | case studies ; confocal microscopy ; congenital myasthenic syndrome ; genetic mutations ; joints ; molecular genetics ; muscle biopsies ; muscle contraction ; nicotinic receptors ; RAPSN gene ; respiratory failure ; RNA ; skeletal muscle ; splicing |
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=16931511&query_hl=12&itool=pubmed_docsum |