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
[The dynamin-2-gene related centronuclear myopathy].
Bitoun M
Medecine Sciences : M/s, 2023
Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.
Laiman J et al.
Current Opinion in Cell Biology, 2023
Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy.
Hayes LH et al.
Neurology. Genetics, 2022
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.
Hohendahl A et al.
Journal of Structural Biology, 2016
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Fattori F et al.
Journal of Neurology, 2015
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.
Gibbs EM et al.
Journal of Molecular Medicine (berlin, Germany), 2013
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.
Catteruccia M et al.
Neuromuscular Disorders : Nmd, 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
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