Title: | A TPM3 mutation causing cap myopathy |
Journal : | Neuromuscular disorders : NMD, 19, 10 |
Authors: | de Paula AM ; Franques J ; Fernandez C ; Monnier N ; Lunardi J ; Pellissier JF ; Figarella-Branger D ; Pouget J |
Material Type: | Article |
Publication Date: | 2009 |
Size: | p 685 |
Languages: | English |
Keywords : | alpha-tropomyosin related cap disease ; beta-tropomyosin related cap disease ; case studies ; congenital fiber-type disproportion myopathy selenoprotein related ; electron microscopy ; genetic mutations ; histochemistry ; muscle biopsies ; photographies ; skeletal muscle ; TPM2 gene ; TPM3 gene ; tropomyosin |
Pubmed / DOI : | Pubmed : 19553118 / DOI : 10.1016/j.nmd.2009.06.365 |