Title: | Une nouvelle affection musculaire familiale, définie par l'accumulation intra-sarco-plasmique d'un matériel granulo-filamentaire dense en microscopie électronique : [A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)]. |
Journal : | Revue neurologique (Paris), 134, 6-7 |
Authors: | Fardeau M, Author ; Godet-Guillain J ; Tomé FMS ; Collin H ; Gaudeau S ; Boffety C ; Vernant P |
Material Type: | Article |
Publication Date: | 1978 |
Size: | p 411 |
Languages: | French |
Keywords : | autosomal dominant inheritance ; case studies ; cataract ; clinical presentation ; electromyography ; electron microscopy ; familial disease ; family trees ; filamentous inclusions ; histochemistry ; histopathology ; hypertrophic cardiomyopathy ; male ; multisystemic disease ; muscle biopsies ; muscle histopathology ; nasal voice ; neuromuscular disease by clinic ; pharyngeal muscles ; phenotypic heterogeneity ; photographies ; respiratory features ; skeletal muscle ; soft palate |
Pubmed / DOI : | Pubmed : 570292 |