ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Charcot–Marie–Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but muc...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Brain
Auteurs principaux: Montecchiani, Celeste, Pedace, Lucia, Lo Giudice, Temistocle, Casella, Antonella, Mearini, Marzia, Gaudiello, Fabrizio, Pedroso, José L., Terracciano, Chiara, Caltagirone, Carlo, Massa, Roberto, St George-Hyslop, Peter H., Barsottini, Orlando G. P., Kawarai, Toshitaka, Orlacchio, Antonio
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2016
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5839554/
https://ncbi.nlm.nih.gov/pubmed/26556829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv320
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires