Article
Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.
Human molecular genetics - 28 May 2020
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
Abstract excerpt
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 DNM2 K562E mutant mice did not develop definitive signs of an axonal or demyelinating neuropathy. Rather, we found a...
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