Title: | MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy |
Journal : | Neuromuscular disorders : NMD, 17, 4 |
Authors: | Pegoraro E ; Gavassini BF ; Borsato C ; Melacini P ; Vianello A ; Stramare R ; Cenacchi G ; Angelini C |
Material Type: | Article |
Publication Date: | 2007 |
Size: | p. 321-329 |
Languages: | English |
Keywords : | autosomal dominant hyaline body myopathy ; creatine kinase ; electrocardiography ; electron microscopy ; family trees ; genetic mutations ; histochemistry ; histopathology ; MRI ; muscle biopsies ; muscle hypertrophy ; MYH7 gene ; photographies ; respiratory failure ; scapuloperoneal muscular dystrophy ; skeletal muscle ; syndrome scapulopéronier lié à MYH7 |
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=17336526&query_hl=9&itool=pubmed_docsum |