Associated Papers
A novel DNM2 variant associated with centronuclear myopathy: a case report.
Rimoldi M et al.
Frontiers in Genetics, 2025
40259930 (PubMed )
Supplement: DataSheet1.pdf
Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.
Laiman J et al.
Current Opinion in Cell Biology, 2023
Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.
Pereira JA et al.
Human Molecular Genetics, 2020
Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease.
Zhao M et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2018
Dynamin-2 function and dysfunction along the secretory pathway.
González-Jamett AM et al.
Frontiers in Endocrinology, 2013
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Böhm J et al.
Human Mutation, 2012
Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination.
Sidiropoulos PN et al.
Brain : a Journal of Neurology, 2012
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Susman RD et al.
Neuromuscular Disorders : Nmd, 2010
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Claeys KG et al.
Brain : a Journal of Neurology, 2009
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
Züchner S et al.
Nature Genetics, 2005
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