Cargando…
Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy
The large GTPase dynamin 2 is a key player in membrane and cytoskeletal dynamics mutated in centronuclear myopathy (CNM) and Charcot-Marie Tooth (CMT) neuropathy, two discrete dominant neuromuscular disorders affecting skeletal muscle and peripheral nerves respectively. The molecular basis for the t...
Autores principales: | Koutsopoulos, Olga S., Koch, Catherine, Tosch, Valerie, Böhm, Johann, North, Kathryn N., Laporte, Jocelyn |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214065/ https://www.ncbi.nlm.nih.gov/pubmed/22096584 http://dx.doi.org/10.1371/journal.pone.0027498 |
Ejemplares similares
-
Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin
por: Muñoz, Xènia Massana, et al.
Publicado: (2020) -
Centronuclear (myotubular) myopathy
por: Jungbluth, Heinz, et al.
Publicado: (2008) -
Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy
por: Trochet, Delphine, et al.
Publicado: (2017) -
Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy
por: Gómez-Oca, Raquel, et al.
Publicado: (2022) -
A Novel Dynamin 2 Mutation Causing Dominant Intermediate
Charcot-Marie-Tooth Neuropathy: Case Report
por: San Luis, Carmela V., et al.
Publicado: (2022)