Accéder directement au contenu Accéder directement à la navigation
Article dans une revue

Some new proposals for the classification of inherited myopathies

Abstract : Dear Editor, In a recent publication in the Journal of the Neurological Sciences, we highlighted the current difficulties in classifying the various forms of inherited myopathies [1]. These suggestions were based on our initial proposals for Charcot-Marie-Tooth disease (CMT) and other neurogenetic disorders) [2]. Recently, we conducted an internet survey to evaluate the interest of the scientific community: 65% of the people consulted considered that changes are needed and that our proposals constitute an improvement over the historical classification of CMT [3, 4]. There have also been recent attempts to solve such problems in other neurogenetic disorders such as hereditary ataxias [5]. We are aware that any new classification of neuromuscular disorders will need to be discussed in the neurological and genetic communities, but we have proposed simplifying the classification of inherited muscular disorders by using the same three successive steps: clinical phenotype, mode of inheritance, then the name of the causative gene (Fig. 1A) [1]....
Type de document :
Article dans une revue
Liste complète des métadonnées

Littérature citée [5 références]  Voir  Masquer  Télécharger

https://hal-unilim.archives-ouvertes.fr/hal-02026014
Contributeur : Elisabeth Grelier <>
Soumis le : vendredi 28 août 2020 - 21:32:12
Dernière modification le : lundi 31 août 2020 - 08:57:50

Fichier

mathis2018.pdf
Fichiers produits par l'(les) auteur(s)

Identifiants

Collections

Citation

Stéphane Mathis, Meriem Tazir, Guilhem Sole, Laurent Magy, Gwendal Le Masson, et al.. Some new proposals for the classification of inherited myopathies. Journal of the Neurological Sciences, Elsevier, 2018, 391, pp.118-119. ⟨10.1016/j.jns.2018.06.014⟩. ⟨hal-02026014⟩

Partager

Métriques

Consultations de la notice

164

Téléchargements de fichiers

76