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
Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules.
Cui Q et al.
Cell, 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
Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy.
Massana Muñoz X et al.
Human Molecular Genetics, 2019
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
Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.
Sambuughin N et al.
Bmc Neurology, 2015
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
[Non-fortuitous dynamin II mutation-related association: neutropenia and Charcot-Marie-Tooth disease].
Saint-Lézer A et al.
Revue Neurologique, 2012
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
Durieux AC et al.
Human Molecular Genetics, 2010
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.
Liewluck T et al.
Neuromuscular Disorders : Nmd, 2010
A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.
Bitoun M et al.
Neuromuscular Disorders : Nmd, 2008
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