Title: | A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus |
Journal : | Neuromuscular disorders : NMD, 17, 2 |
Authors: | Hartley L ; Kinali M ; Knight R ; Mercuri E ; Hübner C ; Bertini E ; Manzur AY ; Jimenez-Mallebrera C ; Sewry CA ; Muntoni F |
Material Type: | Article |
Publication Date: | 02/2007 |
Size: | p. 174-179 |
Languages: | English |
Keywords : | assisted ventilation ; case studies ; congenital myopathy ; diaphragm ; electrodiagnosis ; electromyography ; gastrotomy (operation) ; genetic mutations ; histochemistry ; IGHMBP2 gene ; muscle biopsies ; muscle weakness ; physiopathology ; skeletal muscle ; SMN1 gene |
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=17236770&query_hl=15&itool=pubmed_docsum |