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Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy

Some mutations affecting dynamin 2 (DNM2) can cause dominantly inherited Charcot–Marie–Tooth (CMT) neuropathy. Here, we describe the analysis of mice carrying the DNM2 K562E mutation which has been associated with dominant-intermediate CMT type B (CMTDIB). Contrary to our expectations, heterozygous...

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Detalles Bibliográficos
Autores principales:	Pereira, Jorge A, Gerber, Joanne, Ghidinelli, Monica, Gerber, Daniel, Tortola, Luigi, Ommer, Andrea, Bachofner, Sven, Santarella, Francesco, Tinelli, Elisa, Lin, Shuo, Rüegg, Markus A, Kopf, Manfred, Toyka, Klaus V, Suter, Ueli
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	General Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254847/ https://www.ncbi.nlm.nih.gov/pubmed/32129442 http://dx.doi.org/10.1093/hmg/ddaa034

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