Title: | Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy |
Journal : | Acta myologica, 30, 2 |
Authors: | Vattemi G ; Neri M ; Piffer S ; Gualandi F ; Marini M ; Guglielmi V ; Filosto M ; Tonin P ; Ferlini A ; Tomelleri G |
Material Type: | Article |
Publication Date: | 2011 |
Size: | p. 121-126 |
Languages: | English |
Keywords : | cohort studies ; CRYAB gene ; DES gene ; electron microscopy ; electrophoresis ; genetic analysis ; genetic mutations ; histology ; immunohistochemistry ; LDB3 gene ; muscle biopsies ; myofibrillar myopathy ; MYOT gene ; PCR ; Western blot |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=22106715 |