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Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants

Centronuclear myopathy (CNM) is a congenital myopathy characterised by centralised nuclei in skeletal myofibers. T-tubules, sarcolemmal invaginations required for excitation-contraction coupling, are disorganised in the skeletal muscles of CNM patients. Previous studies showed that various endocytic...

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Detalles Bibliográficos
Autores principales: Fujise, Kenshiro, Noguchi, Satoru, Takeda, Tetsuya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9181712/
https://www.ncbi.nlm.nih.gov/pubmed/35682949
http://dx.doi.org/10.3390/ijms23116274