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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...

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Detalles Bibliográficos
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