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Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model

Dynamin 2 (DNM2) is a key protein of the endocytosis and intracellular membrane trafficking machinery. Mutations in the DNM2 gene cause autosomal dominant centronuclear myopathy (CNM) and a knock-in mouse model expressing the most frequent human DNM2 mutation in CNM (Knock In-Dnm2(R465W/+)) develops...

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Detalles Bibliográficos
Autores principales: Fongy, Anaïs, Falcone, Sestina, Lainé, Jeanne, Prudhon, Bernard, Martins-Bach, Aurea, Bitoun, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367339/
https://www.ncbi.nlm.nih.gov/pubmed/30733559
http://dx.doi.org/10.1038/s41598-018-38184-0