| Titre : | Advances in congenital myopathies : Avancées dans les myopathies congénitales |
| Revue : | Avancées de la recherche |
| Auteurs : | Myoinfo, Auteur ; Malfatti E, Validateur ; Marty I, Validateur ; Nicot AS, Validateur |
| Type de document : | Publication AFM |
| Editeur : | AFM-TELETHON, 06/2023 |
| Collection : | Savoir & Comprendre |
| Langues: | Anglais |
| Mots-clés : | avancée de la recherche ; classification des maladies ; corrélation génotype-phénotype ; épidémiologie ; essai clinique ; étiologie ; histoire naturelle de la maladie ; myopathie congénitale ; physiopathologie ; prise en charge thérapeutique ; thérapie génique |
| Résumé : |
Congenital myopathies are a heterogenous group of rare diseases characterised by structural abnormalities in muscle fibres which are most often detected at a young age. These abnormalities lead to muscle weakness (hypotonia and impaired motor skills) which generally manifests at birth or during the first few months of life (“congenital”). This document, published to coincide with the AFM Téléthon General Meeting 2023, presents research news on congenital myopathies from the past year (ongoing studies and clinical trials, scientific and medical publications, etc.).
> Core myopathy > Central core disease > Multiminicore myopathy > Core-rod myopathy > Nemaline myopathy > Rod myopathy > Cap myopathy > Centronuclear myopathy > X-linked myotubular myopathy > Myosin storage myopathy > Myosinopathy > Congenital fibre-type disproportion myopathy |
| Voir aussi : |
Documents numériques (1)
 AV23_MC_ENG_20230531.pdf Adobe Acrobat PDF |